Results 311 to 320 of about 1,540,335 (330)

Missense mutation in the choroideremia gene

Human Molecular Genetics, 1994
P, Donnelly, H, Menet, C, Fouanon, O, Herbert, J P, Moisan, M G, Le Roux, O, Pascal   +6 more
openaire   +2 more sources

A leptin missense mutation associated with hypogonadism and morbid obesity

Nature Genetics, 1998
A. Strobel, A. Strobel, T. Issad, L. Camoin, M. Ozata, A. Strosberg   +5 more
semanticscholar   +1 more source

SIFT missense predictions for genomes

Nature Protocols, 2015
Robert Vaser, Swarnaseetha Adusumalli, Sim Ngak Leng, M. Šikić, P. Ng   +4 more
semanticscholar   +1 more source

Missense Mutation

2011
openaire   +2 more sources

Statistical Analysis of Missense Mutation Classifiers

Human Mutation, 2012
Stephanie, Hicks, Sharon E, Plon, Marek, Kimmel   +2 more
openaire   +2 more sources

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Nature Genetics, 1998
P. Vicart, A. Caron, P. Guicheney, Zhenlin Li, M. Prevost, A. Faure, D. Château, F. Chapon, F. Tomé, J. Dupret, D. Paulin, M. Fardeau   +11 more
semanticscholar   +1 more source

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature Genetics, 1995
O. Steinlein, J. Mulley, P. Propping, R. Wallace, H. Phillips, G. Sutherland, I. Scheffer, S. Berkovic   +7 more
semanticscholar   +1 more source

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

Nature, 2006
S. Feske, Y. Gwack, M. Prakriya, Sonal Srikanth, Sven-Holger Puppel, Bogdan Tanasa, P. Hogan, R. Lewis, M. Daly, A. Rao   +9 more
semanticscholar   +1 more source

PAX6 missense mutation in isolated foveal hypoplasia

Nature Genetics, 1996
N, Azuma, S, Nishina, H, Yanagisawa, T, Okuyama, M, Yamada   +4 more
openaire   +2 more sources

Two missense mutations in

Animal Genetics, 2014
D. I. V�ge, M. Nieminen, D. G. Anderson, K. H. R�ed   +3 more
openaire   +1 more source