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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2020
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7668189/
https://www.ncbi.nlm.nih.gov/pubmed/33106425
http://dx.doi.org/10.1073/pnas.2002660117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7668189/
https://www.ncbi.nlm.nih.gov/pubmed/33106425
http://dx.doi.org/10.1073/pnas.2002660117

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