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Frameshift mutation

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, [ ... ], Karsten Spiekermann

BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

Gaik Theng Toh, Peter Kang, [ ... ], Soo-Hwang Teo

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu, Lidia González-Quereda, [ ... ], Pia Gallano

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

Jing Zheng, Zhengbiao Ying, [ ... ], Min-Xin Guan

Using Genomic Sequencing for Classical Genetics in E. coli K12

Eric Lyons, Michael Freeling, Sydney Kustu, William Inwood

Amplicon Sequencing of Colorectal Cancer: Variant Calling in Frozen and Formalin-Fixed Samples

Johannes Betge, Grainne Kerr, [ ... ], Michael Boutros

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

Saija J. Ahonen, Meharji Arumilli, Hannes Lohi

Persistence of Anticancer Activity in Berry Extracts after Simulated Gastrointestinal Digestion and Colonic Fermentation

Emma M. Brown, Gordon J. McDougall, [ ... ], Chris I. R. Gill

Wolfram Syndrome: New Mutations, Different Phenotype

Concetta Aloi, Alessandro Salina, [ ... ], Giuseppe d'Annunzio

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

Genome Analysis of the First Extensively Drug-Resistant (XDR) Mycobacterium tuberculosis in Malaysia Provides Insights into the Genetic Basis of Its Biology and Drug Resistance

Chee Sian Kuan, Chai Ling Chan, [ ... ], Kee Peng Ng

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

Ana Blanco, Miguel de la Hoya, [ ... ], Ana Vega

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