Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

Abstract X-linked Alport syndrome is a genetic kidney disease caused by pathogenic COL4A5 variants, but little is known of the consequences of missense variants affecting the NC1 domain of the corresponding collagen IV α5 chain. This study examined these variants in a normal (gnomAD) and other datab...

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Bibliographic Details
Main Authors: Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige
Format: Article
Language:English
Published: Nature Portfolio 2022-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-14928-x

Internet

https://doi.org/10.1038/s41598-022-14928-x

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