Results 361 to 370 of about 1,544,422 (378)

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis

American Journal of Medical Genetics. Part A, 2015
N. Gossai, J. Biegel, L. Messiaen, S. Berry, C. Moertel   +4 more
semanticscholar   +1 more source

Missense Mutation

2011
openaire   +2 more sources

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

Statistical Analysis of Missense Mutation Classifiers

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

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 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

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

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

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

Missense Mutation

2009
openaire   +1 more source