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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Kidney Med
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2021
Предметы:
Original Research
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы