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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...

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書目詳細資料
發表在:Front Cardiovasc Med
Main Authors: Leonard, Riley J., Preston, Claudia C., Gucwa, Melanie E., Afeworki, Yohannes, Selya, Arielle S., Faustino, Randolph S.
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2020
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在線閱讀: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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