Going Live over @ twitch.tv/hermithutgames Last #stream was cut short because the internet went out. Playing #warhammer #returnofreckoning. #twitch
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
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Mar 2021 – Oct 2025Where it's discussed
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Bluesky100 posts
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YouTube6 videos
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What people are saying
Overall, the discussions reveal a general disinterest or dismissiveness toward the publication, supported by tone and word choice like 'bunch of bull' and 'well that's just'. Some posts reference unrelated subjects like fashion, gaming, or political conspiracy theories, which further diminish the perceived relevance and engagement with the scientific study.
Most discussions show little understanding or support for the publication, with some dismissive posts calling it 'bunch of bull' or saying 'well that's just a bunch of bull'.
The discussions mainly lack curiosity and seem unrelated to the scientific content, reflecting neutral or indifferent attitudes.
Participants do not deeply engage with the research; comments are mostly brief, with some expressing mild curiosity or mentioning unrelated topics.
The collective influence of these discussions on understanding or disseminating the research appears minimal, indicating they do not significantly affect how the publication is perceived.
Abstract in brief
- The text discusses four new mutations in the gene responsible for MPS VII (Sly syndrome), a genetic disease caused by low levels of the enzyme betaglucuronidase, which leads to severe health problems.
- These mutations include point mutations that change a single DNA base, resulting in missense or nonsense mutations, and a 38-base pair deletion caused by a mutation creating a new splice site, all leading to significantly reduced enzyme activity.
- The discovery of these mutations highlights the genetic diversity of MPS VII and helps us understand how different changes in the gene can cause the disease's severe forms.]
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Most liked on X and BlueskyWhat if the real NLCS was the friends we made along the way?
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Found The Fashion Mall
納車しました!
昨日、今日スレッズにパッチの投稿できた。それ以前の数日分がいまだに待機中なのはいつまで続くのかな。
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This romcom manwha I'm reading has the MC consult ChatGPT to figure out her feelings
lovers’ excrement, a kind of florist, salvaged floral products, tear stained savings, sad gay people work there
あら、村山元首相が
Well that's just a bunch of bull/s
ありがとなのです
El proyecto, que se presentó en la ITB de Berlín en 2019, será a finales de año una realidad tras años de reivindicaciones
Found The Fashion Mall
"Believe you can and you're halfway there. Stay focused, stay driven. Success is a mindset, not a destination. Share your favorite motivational quote with me and let's crush our goals together! #Motivation #MindsetMatte... you can buy cheap groceries from amazon: https://zort.my/ska
JFC.
飛ばし記事が大外れする可能性を考えて心の準備をだな…
#aiart
They seem to always meet around a protest & away from possible vote on Epstein. This time add no news media & a shutdown a win for Putin a & when he shakes Trump's hand this time it will be for a longer time & watch Trump's health decline faster than expected before this meeting. Just a thought
i didn't know the monkeys too well since they weren't on switch but i am becoming obsessed with simisear!! he's my little guy!!
元々自分からそこまで話してはなかったと思うけど余計に話が出てこないから、あら?って祖父母はなったんだろうね。祖父母が仁くん両親に「仁くんは元気?」みたいにソっと聞いたり聞かなかったり。 多分、自分で笑ったって認識もしてないよ環は。 目合わせられるかな
食べたい
神河恭狼握
昨日、今日スレッズにパッチの投稿できた。それ以前の数日分がいまだに待機中なのはいつまで続くのかな。
らすぶ
#pso2ngs #pso2jp お知らせ (13:16 JST) 13:30 - ダークファルス迎撃戦 13:30 - 資源採掘リグ防衛戦:リテム 13:30 - 星壊の白焔 13:30 - 星蝕の奔流
Going Live over @ twitch.tv/hermithutgames Last #stream was cut short because the internet went out. Playing #warhammer #returnofreckoning. #twitch
ぉゆ
Dixon school board may sign onto solar plan to save energy costs
Nice. More like 67
“Lando” Gloc-9 feat. Francis M — Diploma (2007)
Goodnight, humanity
BBC Radio 1Xtra 1Xtra's Throwback Thursday Now Playing Bunji Garlin Carnival Contract
Die heutige Losung steht in 1. Mose 32,27: Ich lasse dich nicht, du segnest mich denn.
I don't think ANYONE who has the military in their OWN streets like it. I don't even like seeing COPS everywhere. The only people who may getting "normalized" to the idea - are the ones who are watching the troops on OTHER PEOPLE'S streets, NOT their OWN!
아 그런게 있겠네요
Top Congressman Warns Mike Johnson May Never Swear in Newly Elected Democrats: ‘It Is a Dictatorship’ https://www.europesays.com/2499525/ Top Congressman Warns Mike Johnson May Never Swear in Newly Elected Democrats: ‘It Is a Dictatorship’ Top Congressman…
North Central Division, Beat: 624, 6X - Major Dist (Violence) at 71XX BLOCK TOWN BLUFF DR reported on 10/16/2025, 11:12 PM CDT, Incident# 25-1849705 #dpdi-div-nc #dpdi-beat-624
In for a penny in for a pound Stefanik. Isn’t she getting primaried? (Not sure on the spelling
also when they were calling him a virgin and you said quietly "i'm not a virginnn" xdd
あれはマジで痛かった 膝が急に曲がらなくなって転けてた時の方がマシだったってなったもんな
Zitong Wangでした申し訳ない……
I'm not one of you.
HOMDGCAT 経由の 3.7 v4 MOC https://www.playing-games.com/836807/ HOMDGCAT 経由の 3.7 v4 MOC by Vegetable_ww0
Hope you enjoy
Q10: What’s a genre far outside of the one you usually work in you’re willing to try?
Benioff shows his true colors. www.nytimes.com/2025/10/10/u...
What an idiot.
Sexy
Thanks, this used to show up in my feed and I shared it everytime......
ช่วงนี้หยุดรับงานเจอกัน 28 น๊า
最近よく行くコンビニが現金可のセルフレジができているんだが、少し買い物するときに手軽に支払いが済ませられて有り難い
Primer post
What this ceasefire non ceasefire solidifies for me is .. this illusion of an end to things "preferably 2 years ago" was most ppls bottom line..it could have been done then, but the right of that country to wipe those ppl out and decimate that land superseded any right to illusion we ever had.
“California will start selling low-cost insulin in January, becoming the first state in the nation to bypass Big Pharma with its own supply of the expensive diabetes drug and marking a notable win in Gov. Gavin Newsom’s push to rein in health care costs with state-branded drugs.”
I heard this in the 2007 era from a devoted Fox News watcher.
"Resilience reigns supreme. Here are my favorite quotes on never giving up: "You don't have to be great to start, but you have to start to be great." - Zig Ziglar "Don't watch the clock, do what it does. Keep going."... you can buy cheap groceries from amazon: https://zort.my/ska
Also you compared Kaya to Gaza. You're fucking insane.
Right? Boobs are amazing
Alfonso regresando a la TCA 20 mil años después solo para denunciar a Marco Aurelio y solo lo hizo con ayuda de Consuelo
Moin Ed ☺️
ICE has hindered different events.
god I still can't believe Firestorm is getting a new book, I literally said this two days before the announcement
> 例えば、「非常に丁寧」なプロンプトは「この問題を親切にご検討いただき、お答えいただけますでしょうか。(Can you kindly consider the following problem and provide your answer.)」という言い方であるのに対し、「非常に無礼」なプロンプトは「おい雑用係、これを解け。お前が賢くないのは分かっているが、やってみろ。(Hey gofer, figure this out. I know you're not smart, but try this.)」と、乱暴で侮辱的な表現を含んでいます。 草
『メルマガで使える罫線&囲み枠サンプル25選|使用上の注意点も解説』 2025年9月5日更新、インディードキャリアガイド。 #コピペ #メールデコ
Palestinian leader Marwan Barghouti assaulted by Israeli prison guards, son says https://www.europesays.com/2499531/ Palestinian leader Marwan Barghouti assaulted by Israeli prison guards, son says …
Do you think he actually realized he was talking to Literally Multimillionaire Recording Artist and Foundational Rapper Busta Rhymes or just like, some guy, since every NFT guy is a soulless void where human experience should go so he didn’t know who that was
東島丹三郎は仮面ライダーになりたい、本当に力(りき)入ったアニメ化でめちゃめちゃ泣いてしまう。。何を置いてもこれだけは毎週真っ先に見るから。。
Yo, my homosexual followers!
Last thought for the night: I’ve met lots of lovely people online and made some genuine and close friends here. Thank you all for being you.
Hahaha I need to get it serviced. WIP
My lil baby vampire oc Himura Hana
oh i see! the second one really gets the lighting perfect, i think. the first one is great too, but my brain instantly saw the second as a painting, if that makes sense.
Even if born before me, they’re imposters
Wow
HEY I DRAW THE LINE AT COCA COLA
Where in Portland did this happen?
✔️
What if the real NLCS was the friends we made along the way?
cute
technology was a mistake lmao
Grown ass adults. SMH
Oh yeah, here's another one: futurism.com/artificial-i...
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Trump will vomit lies about anything and everything. He still lies about killing over a million Americans in two years.
ほんそれ 対戦よろしくお願いします
I turn ... too old on Monday. There's more nuance than I can convey here, but, tonight was my one chance to get out. Won second in trivia, which was great, & being out with friends really meant a lot. But I'm struggling fam. This isn't where I wanted to be
Tepozaras könnyen lejon és bejonnek alatta a poloskak. Nekünk a Lild femvazas teljesen jól működik az összes ablakon. (a konyha ablakon még saját gyártmány van, ami tél környékén lekerul, de ott én szeretnék ablakot csereltetni)
imagine trying to explain what a corner prophet is in 2025
They are adults. Fire them?
Extremely Large Ass, Wasp Waist, Big Bush AI Porn #NSFW #AdultContent #AI #AIGirls #AIPorn #Sex #Gooners #AIGenerated
朝ドラばけばけの全てが素晴らしくて毎日生きるのが楽しみになっております
☀️すぎのこさん、お早ですにゃぅ♪₍^> ̫ <^₎
納車しました!
I troll people defending animal abusers, for about a week now. You do this daily, every waking moment. If there is anything I should learn from this. It's not to become you.
Can you check my messages please?
uh oh
Nessuna prova, ma… Oggi puntata speciale dell'opinione non richiesta: non un'opinione, ma solo titoli di giornale. Leggeteli tutti d’un fiato, poi soffermatevi sull'ultimo che è di poche ore fa, poi rileggete il titolo dell'opinione e traetene le vostre conclusioni: www.facebook.com/share/p/1BSw...
OSEF de ces deux cons ! Ça leur fera passer l'envie d'aller enrichir une dictature, au mépris des recommandations de Quai d'Orsay auprès duquel ils quémandent aujourd'hui.
thank you friend
To be clear, I’m not saying Stefanski is blameless for what is going on with the #Browns offense right now. But we also know the guy can coach, and Flacco’s 1st stint with the Browns showed it. The difference this year is the Browns players are not performing as well and are not as skilled.
We will have trials. We will demand them
カフカ (@kami_kuro8) https://www.playing-games.com/836809/ カフカ (@kami_kuro8) by CuriousWanderer567
Sorry it was a bad date tho