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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Dettagli Bibliografici
Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2020
Soggetti:
Biological Sciences
Accesso online: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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