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Mutation databases

Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

Dirce Maria Carraro, Maria Aparecida Azevedo Koike Folgueira, [ ... ], Maria Mitzi Brentani

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

Berta Luzón-Toro, Raquel M. Fernández, [ ... ], Salud Borrego

Distinct Protein Classes in Human Red Cell Proteome Revealed by Similarity of Phylogenetic Profiles

Paweł Szczesny, Agnieszka Mykowiecka, Krzysztof Pawłowski, Marcin Grynberg

Description of the L76V Resistance Protease Mutation in HIV-1 B and “Non-B” Subtypes

Charlotte Charpentier, Sidonie Lambert-Niclot, [ ... ], Diane Descamps

De Novo Sequencing of Astyanax mexicanus Surface Fish and Pachón Cavefish Transcriptomes Reveals Enrichment of Mutations in Cavefish Putative Eye Genes

Hélène Hinaux, Julie Poulain, [ ... ], Sylvie Rétaux

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

Anna Tarradas, Elisabet Selga, [ ... ], Ramon Brugada

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, [ ... ], Ana María Oller de Ramírez

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, [ ... ], Detlev Schindler

Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Shih-Kai Wang, Hui-Chen Chan, [ ... ], Jan C-C. Hu

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, [ ... ], Mustafa Tekin

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Ying Lin, Xue-Jun Chen, [ ... ], Zheng-Lin Yang

Establishment and Characterization of a Highly Tumourigenic and Cancer Stem Cell Enriched Pancreatic Cancer Cell Line as a Well Defined Model System

Johannes Fredebohm, Michael Boettcher, [ ... ], Jörg D. Hoheisel

Screening for and Verification of Novel Mutations Associated with Drug Resistance in the HIV Type 1subtype B^′ in China

Hanping Li, Qingmao Geng, [ ... ], Jingyun Li

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