Novel STAG2 gene mutation explains complex phenotype in boy with polycystic kidney disease-1

Published: 26 February 2025| Version 1 | DOI: 10.17632/x652zvbr4k.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, Gene

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