Results 301 to 310 of about 176,674 (312)

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

Molecular Genetics & Genomic Medicine, 2020
Alireza R Rezaie, Lubka T Roumenina, Nathalie Lagarde   +2 more
exaly  

Mutation, Missense

2001
openaire   +1 more source

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

PLoS Medicine, 2006
Jeffrey C Lee, Igor Vivanco, Rameen Beroukhim   +2 more
exaly  

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

Genetics in Medicine, 2020
Kathleen A Williamson, Liusaidh J Owen, Benjamin J Livesey   +2 more
exaly  

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

Human Mutation, 2013
Bryony A Thompson, Marc S Greenblatt, Maxime P Vallée   +2 more
exaly  

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

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

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

Human Molecular Genetics, 1993
E Coto, Xavier Estivill
exaly  

Missense mutations at ATM gene and cancer risk

The Lancet, 1999
I, Vorechovsky, L, Luo, E, Ortmann, D, Steinmann, T, Dörk   +4 more
openaire   +2 more sources

Engineered mischarged transfer RNAs for correcting pathogenic missense mutations

Molecular Therapy
Tao Pan
exaly  

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations

Kidney International Reports, 2017
Mardhiah Mohammad, Yan Yan Wang, Rachel H Tan   +2 more
exaly