Results 371 to 380 of about 1,506,824 (383)

A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Annals of Human Genetics, 2014
Christina Votsi, E. Zamba-Papanicolaou, L. Middleton, M. Pantzaris, K. Christodoulou   +4 more
semanticscholar   +1 more source

MutationTaster2: mutation prediction for the deep-sequencing age

Nature Methods, 2014
Jana Marie Schwarz, D. Cooper, M. Schuelke, D. Seelow   +3 more
semanticscholar   +1 more source

Mutation, Missense

2001
openaire   +1 more source

Informational suppression of missense mutations

Cell, 1975
openaire   +2 more sources

A Missense Mutation in DUSP6 is Associated with Class III Malocclusion

Journal of dentistry research, 2013
T. Nikopensius, M. Saag, T. Jagomägi, T. Annilo, M. Kals, P. Kivistik, L. Milani, A. Metspalu   +7 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

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Cell, 1990
A. Geisterfer-Lowrance, S. Kass, G. Tanigawa, H. Vosberg, W. McKenna, C. Seidman, J. Seidman   +6 more
semanticscholar   +1 more source

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

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

British Journal of Dermatology, 2012
J. Lai-Cheong, Gomathy Sethuraman, M. Ramam, Katie Stone, Michael A. Simpson, John A. McGrath   +5 more
semanticscholar   +1 more source

PAX6 missense mutation in isolated foveal hypoplasia

Nature Genetics, 1996
Masao Yamada, Hiroko Yanagisawa, Sachiko Nishina, Noriyuki Azuma, Torayuki Okuyama   +4 more
openaire   +3 more sources