Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants

RATIONALE & OBJECTIVE: Pathogenic variants in type IV collagen have been reported to account for a significant proportion of chronic kidney disease. Accordingly, genetic testing is increasingly used to diagnose kidney diseases, but testing also may reveal rare missense variants that are of uncer...

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Veröffentlicht in:Kidney Med
Hauptverfasser: Shulman, Cole, Liang, Emerald, Kamura, Misato, Udwan, Khalil, Yao, Tony, Cattran, Daniel, Reich, Heather, Hladunewich, Michelle, Pei, York, Savige, Judy, Paterson, Andrew D., Suico, Mary Ann, Kai, Hirofumi, Barua, Moumita
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2021
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Original Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8039416/
https://ncbi.nlm.nih.gov/pubmed/33851121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.xkme.2020.12.007
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