Results 331 to 340 of about 1,703,111 (346)

Prospective functional classification of all possible missense variants in PPARG

Nature Genetics, 2016
Amit R Majithia, Stephen O'rahilly, Gina M Peloso   +2 more
exaly  

Missense meanderings in sequence space: a biophysical view of protein evolution

Nature Reviews Genetics, 2005
Daniel L Hartl
exaly  

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Human Mutation, 2011
G. Esposito, F. De Falco, N. Tinto, F. Testa, L. Vitagliano, Igor Cristian Maria Tandurella, L. Iannone, S. Rossi, E. Rinaldi, F. Simonelli, A. Zagari, F. Salvatore   +11 more
semanticscholar   +1 more source

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Nature, 1995
Peter H St George-Hyslop, Rudolph E Tanzi   +1 more
exaly  

Informational suppression of missense mutations

Cell, 1975
openaire   +1 more source

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

New England Journal of Medicine, 1999
Diane Fatkin, Serena Spudich, John J Atherton   +2 more
exaly  

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

Nature Genetics, 1996
H. Vastardis, H. Vastardis, N. Karimbux, S. Guthua, J. Seidman, Christine E. Seidman, Christine E. Seidman   +6 more
semanticscholar   +1 more source

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Nature Genetics, 2018
Siwei Chen, Lambertus Klei, Jiebiao Wang
exaly  

Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility

Cancer Cell, 2004
Richard D Kolodner, Winfried Edelmann, Mimi Kim   +2 more
exaly  

Phenylketonuria splice mutation (EXON6nt‐96Ag) masquerading as missense mutation (Y204C)

Human Mutation, 1997
S, Ellingsen, P M, Knappskog, H G, Eiken
openaire   +2 more sources