Results 251 to 260 of about 714,611 (262)

Understanding missense mutations in the BRCA1 gene: An evolutionary approach

Proceedings of the National Academy of Sciences of the United States of America, 2003
John Potter, Elaine Ostrander
exaly  

HER2 missense mutations have distinct effects on oncogenic signaling and migration

Proceedings of the National Academy of Sciences of the United States of America, 2015
Karen Cravero, Ben Ho Park, Heather Parsons   +2 more
exaly  

Analysis of protein missense alterations by combining sequence- and structure-based methods

Molecular Genetics & Genomic Medicine, 2020
Maria A Miteva, Véronique Frémeaux-Bacchi, Alireza R Rezaie   +2 more
exaly  

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

Kidney International, 2004
Jamshid Khoshnoodi, Hitoshi Takenaka, Vesa Ruotsalainen   +2 more
exaly  

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications†

Human Mutation, 2008
Alun Thomas, Sean V Tavtigian, David Goldgar   +2 more
exaly  

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Genetics in Medicine, 2020
Benjamin J Livesey, Anthony T Moore, Kathleen A. Williamson   +2 more
exaly  

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase

Proteins: Structure, Function and Bioinformatics, 2012
John Moult
exaly  

Epidermal Growth Factor Receptor Activation in Glioblastoma through Novel Missense Mutations in the Extracellular Domain

PLoS Medicine, 2006
Rameen Beroukhim, Igor Vivanco, Tomohiro Kawaguchi   +2 more
exaly  

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Human Mutation, 2013
Alun Thomas, Shamil R Sunyaev, Robert Hofstra   +2 more
exaly  

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

Human Molecular Genetics, 1993
Xavier Estivill i Pallejà, E Coto
exaly