Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot

Functional variants in nuclear envelope genes are implicated as underlying causes of cardiopathology. To examine the potential association of single nucleotide variants of nucleoporin genes with cardiac disease, we employed a prognostic scoring approach to investigate variants of NUP155, a nucleopor...

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Detalles Bibliográficos
Publicado en:Front Cardiovasc Med
Main Authors: Leonard, Riley J., Preston, Claudia C., Gucwa, Melanie E., Afeworki, Yohannes, Selya, Arielle S., Faustino, Randolph S.
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2020
Assuntos:
Cardiovascular Medicine
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7019101/
https://ncbi.nlm.nih.gov/pubmed/32118046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcvm.2020.00008
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