Results 281 to 290 of about 714,661 (305)

Missense Mutation

2011
openaire   +2 more sources

A missense mutation in contributes to maintain muscle fiber stability

Poultry Science, 2022
exaly  

Statistical Analysis of Missense Mutation Classifiers

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

Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue

Journal of Molecular and Cellular Cardiology, 2016
Jolanda van der Velden, Lucie Carrier, Felix W Friedrich   +2 more
exaly  

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

Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management

European Journal of Surgical Oncology, 2007
Carla Oliveira, Joana Paredes, Giovanni Corso   +2 more
exaly  

Missense Mutation

2009
openaire   +1 more source

The missense p.Trp7Arg mutation in gene leads to progranulin haploinsufficiency

Neurobiology of Aging, 2020
Alexis Brice, Julien Lagarde, Isabelle Le Ber   +2 more
exaly  

Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

Human Genetics, 1996
Jun Tohyama, Frank Martiniuk, F Martiniuk   +2 more
exaly  

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

American Journal of Medical Genetics, Part A, 2002
Yoshihiro Ogawa, Megumú Hino, Katsuji Ikekubo   +2 more
exaly