Results 371 to 378 of about 1,544,422 (378)

Mutation, Missense

2001
openaire   +1 more source

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

Informational suppression of missense mutations

Cell, 1975
openaire   +1 more source

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

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

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