Publications by authors named "Samuel Martin-Rodriguez"

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Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.
Raquel Salazar Saez, Miriam Zorrilla, Rosa Sánchez, Ana Cebollero, Isabel Manrique, Samuel Martin-Rodriguez

Hered Cancer Clin Pract· October 2024

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Identification of a novel HLA-C*07 allele, HLA-C*07:943, in a Spanish individual.
Maria-Alicia Calvo-Ferrer, Samuel Martin-Rodriguez, Maria-Pilar Sanz-Izquierdo, Laura Samaniego-Jimenez, Ivan Bernardo-Gonzalez

HLA· December 2021

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A novel SERPING1 gene variant causing angioedema in a patient with low C1q levels.
María-Alicia Calvo-Ferrer, Samuel Martín-Rodríguez, Nerea Ortega-Unanue, Ángel-Javier Blasco-Sarramián, Iván Bernardo-González

Ann Allergy Asthma Immunol· December 2019

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Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Samuel Martin-Rodriguez, Alicia Calvo-Ferrer, Nerea Ortega-Unanue, Laura Samaniego-Jimenez, Maria Pilar Sanz-Izquierdo

Ann Hum Genet· July 2019

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B2G-FAR, a species-centered GO annotation repository.
Stefan Götz, Roland Arnold, Patricia Sebastián-León, Samuel Martín-Rodríguez, Patrick Tischler

Bioinformatics· April 2011

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