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Mutation databases

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

DiMeX: A Text Mining System for Mutation-Disease Association Extraction

A. S. M. Ashique Mahmood, Tsung-Jung Wu, Raja Mazumder, K. Vijay-Shanker

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Marika Pane, Elena S. Mazzone, [ ... ], Eugenio Mercuri

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, [ ... ], Kikuo Nutahara

Bi-Directional SIFT Predicts a Subset of Activating Mutations

William Lee, Yan Zhang, [ ... ], Zemin Zhang

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy

Mireia Alcalde, Oscar Campuzano, [ ... ], Ramon Brugada

Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing

Claudia Vollbrecht, Fabian Dominik Mairinger, [ ... ], Reinhard Buettner

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, [ ... ], Bernd A. Neubauer

HIV Drug Resistance (HIVDR) in Antiretroviral Therapy-Naïve Patients in Tanzania Not Eligible for WHO Threshold HIVDR Survey Is Dramatically High

Christa Kasang, Samuel Kalluvya, [ ... ], Benedikt Weissbrich

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, [ ... ], Cristina Battaglia

Acute myeloid leukemia immunopeptidome reveals HLA presentation of mutated nucleophosmin

Rupa Narayan, Niclas Olsson, [ ... ], Ron Levy

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Steven Marston, Cecile Montgiraud, [ ... ], Ralph Knöll

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Bárbara Alemar, Cleandra Gregório, [ ... ], Patricia Ashton-Prolla

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