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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039416/
https://www.ncbi.nlm.nih.gov/pubmed/33851121
http://dx.doi.org/10.1016/j.xkme.2020.12.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039416/
https://www.ncbi.nlm.nih.gov/pubmed/33851121
http://dx.doi.org/10.1016/j.xkme.2020.12.007

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