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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: National Academy of Sciences 2020
Fag:
Biological Sciences
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker