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A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by pathogenic variants of PKD1 and PKD2. Compared to PKD2‐related patients, patients with PKD1 pathogenic variants have more severe symptoms, present a gradual decline in renal function, and finally progress to end‐sta...

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Detalles Bibliográficos
Autores principales:	Zhao, Qianying, Tan, Yu, Xiao, Xiao, Xiang, Qinqin, Yang, Mei, Wang, He, Liu, Shanling
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422069/ https://www.ncbi.nlm.nih.gov/pubmed/37272738 http://dx.doi.org/10.1002/mgg3.2217

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