Results 291 to 300 of about 176,674 (312)

Statistical Analysis of Missense Mutation Classifiers

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

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer

Frontiers in Genetics, 2023
Emel Timucin, Cemaliye Boylu Akyerli, Yesilyurt Ahmet   +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

Understanding missense mutations in the BRCA1 gene: An evolutionary approach

Proceedings of the National Academy of Sciences of the United States of America, 2003
John D Potter, Gary K Ostrander, Elaine A Ostrander   +2 more
exaly  

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

Journal of Genetics and Genomics, 2019
Jieqiong Tan, Tengfei Zhu, Jianjun Ou
exaly  

HER2missense mutations have distinct effects on oncogenic signaling and migration

Proceedings of the National Academy of Sciences of the United States of America, 2015
Daniel J Zábranský, Christopher L Yankaskas, Rory L Cochran   +2 more
exaly  

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

Kidney International, 2004
Yukino Nishibori, Makoto Hosoyamada, Hitoshi Takenaka   +2 more
exaly  

Mutant thermal proteome profiling for characterization of missense protein variants and their associated phenotypes within the proteome

Journal of Biological Chemistry, 2020
Sarah A Peck Justice, Mónica P Barron, H R Sagara Wijeratne   +2 more
exaly  

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

Human Mutation, 2008
Sean V Tavtigian, Graham B Byrnes, David E Goldgar   +2 more
exaly  

Missense Mutation

2009
openaire   +1 more source