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

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 databases (LOV...

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Detalles Bibliográficos
Autores principales:	Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Savige, Judy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9253329/ https://www.ncbi.nlm.nih.gov/pubmed/35789182 http://dx.doi.org/10.1038/s41598-022-14928-x

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