Data Sheet 1_Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.docx

Data Sheet 1_Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.docx

Background<p>More than 60% of cases of 46,XY gonadal dysgenesis (GD), a condition classified as a disorder of sex development (DSD), remain unexplained, which is due to high genetic and clinical heterogeneity. Whole-exome sequencing (WES) is an efficient primary genetic diagnostic method; spec...

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Bibliographic Details
Main Author: Ning Zhang (23771) (author)
Other Authors: Shuoming You (21073580) (author), Jingjing Guo (393650) (author), Xingyu Chang (12860146) (author), Junjun Qiu (10462250) (author), Keqin Hua (411296) (author)
Published: 2025
Subjects:
Cell Metabolism
46,XY gonadal dysgenesis
genetic etiology
whole exome sequencing
zinc finger
congenital heart disease
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