The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

Elucidating the precise molecular events altered by disease-causing genetic variants represents a major challenge in translational bioinformatics. To this end, many studies have investigated the structural and functional impact of amino acid substitutions. Most of these studies were however limited...

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Detalhes bibliográficos
Publicado no:PLoS Comput Biol
Main Authors: Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David N., Mooney, Sean D., Radivojac, Predrag
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5001644/
https://ncbi.nlm.nih.gov/pubmed/27564311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1005091
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