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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:PLoS Comput Biol
मुख्य लेखकों: Lugo-Martinez, Jose, Pejaver, Vikas, Pagel, Kymberleigh A., Jain, Shantanu, Mort, Matthew, Cooper, David N., Mooney, Sean D., Radivojac, Predrag
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2016
विषय:
ऑनलाइन पहुंच: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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