Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

Interpretation of the colossal number of genetic variants identified from sequencing applications is one of the major bottlenecks in clinical genetics, with the inference of the effect of amino acid-substituting missense variations on protein structure and function being especially challenging. Here...

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Bibliographic Details
Published in:Proc Natl Acad Sci U S A
Main Authors: Iqbal, Sumaiya, Pérez-Palma, Eduardo, Jespersen, Jakob B., May, Patrick, Hoksza, David, Heyne, Henrike O., Ahmed, Shehab S., Rifat, Zaara T., Rahman, M. Sohel, Lage, Kasper, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2020
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7668189/
https://ncbi.nlm.nih.gov/pubmed/33106425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2002660117
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