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...

Descripción completa

Detalles Bibliográficos
Autores principales: Leonard, Riley J., Preston, Claudia C., Gucwa, Melanie E., Afeworki, Yohannes, Selya, Arielle S., Faustino, Randolph S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019101/
https://www.ncbi.nlm.nih.gov/pubmed/32118046
http://dx.doi.org/10.3389/fcvm.2020.00008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019101/
https://www.ncbi.nlm.nih.gov/pubmed/32118046
http://dx.doi.org/10.3389/fcvm.2020.00008

Ejemplares similares