Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family-1
View DatasetYang, Qi
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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Publication Details
Subfield
Artificial Intelligence
Field
Computer Science
Domain
Physical Sciences
Confidence Score
65%
Source
Open Alex
Keywords
GeneticsFOS: Biological sciences