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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...
Autores principales: | Leonard, Riley J., Preston, Claudia C., Gucwa, Melanie E., Afeworki, Yohannes, Selya, Arielle S., Faustino, Randolph S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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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 |
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