Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic VariantsPlain-Language Summary

Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic VariantsPlain-Language Summary

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 u...

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Bibliographic Details
Main Authors: Cole Shulman, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich, Michelle Hladunewich, York Pei, Judy Savige, Andrew D. Paterson, Mary Ann Suico, Hirofumi Kai, Moumita Barua
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Kidney Medicine
Subjects:
Alport syndrome
FSGS
type IV collagen variants
genomics
in silico predictions
computational predictions
Online Access:http://www.sciencedirect.com/science/article/pii/S2590059521000200

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http://www.sciencedirect.com/science/article/pii/S2590059521000200

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