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Mutation detection

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

Degui Zhi, Rui Chen

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Carlos Cruchaga, Sumitra Chakraverty, [ ... ], for the NIA-LOAD/NCRAD Family Study Consortium

Intra- and Inter-Tumor Heterogeneity of BRAFV600EMutations in Primary and Metastatic Melanoma

Molly Yancovitz, Adam Litterman, [ ... ], David Polsky

Pre-Existing Isoniazid Resistance, but Not the Genotype of Mycobacterium Tuberculosis Drives Rifampicin Resistance Codon Preference in Vitro

Indra Bergval, Brian Kwok, [ ... ], Richard Anthony

Extremely High Tp53 Mutation Load in Esophageal Squamous Cell Carcinoma in Golestan Province, Iran

Behnoush Abedi-Ardekani, Farin Kamangar, [ ... ], Pierre Hainaut

Dynamics of Resistance Development to Imatinib under Increasing Selection Pressure: A Combination of Mathematical Models and In Vitro Data

Benjamin Werner, David Lutz, [ ... ], Stefan Balabanov

KRAS Mutations Testing in Colorectal Carcinoma Patients in Italy: From Guidelines to External Quality Assessment

Nicola Normanno, Carmine Pinto, [ ... ], Antonio Marchetti

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, [ ... ], Yi-Chung Lee

Prevalence and Impact of Minority Variant Drug Resistance Mutations in Primary HIV-1 Infection

Joanne D. Stekler, Giovanina M. Ellis, [ ... ], Lisa M. Frenkel

EZH2 Codon 641 Mutations are Common in BCL2-Rearranged Germinal Center B Cell Lymphomas

Russell J. H. Ryan, Mai Nitta, [ ... ], Long Phi Le

Is High Resolution Melting Analysis (HRMA) Accurate for Detection of Human Disease-Associated Mutations? A Meta Analysis

Bing-Sheng Li, Xin-Ying Wang, [ ... ], An-Gao Xu

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

María González-del Pozo, Salud Borrego, [ ... ], Guillermo Antiñolo

Fitness Conferred by BCR-ABL Kinase Domain Mutations Determines the Risk of Pre-Existing Resistance in Chronic Myeloid Leukemia

Kevin Leder, Jasmine Foo, [ ... ], Franziska Michor

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