Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family-1

Published: 10 September 2025| Version 1 | DOI: 10.17632/sx3c492n72.1
Contributor:
Qi Yang

Description

Trio whole-exome sequencing (Trio-WES) was performed on a Chinese family to investigate the genetic etiology of the proband’s multiple congenital malformations and familial PKD.

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Genetics

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