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

View Dataset
Yang, 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.

Citations (0)

Mentions (0)

Metrics

Dataset Index

0.4

FAIR Score

65%

Citations

0

Mentions

0

Metrics Over Time

Publication Details

DOI

Publisher

Mendeley Data

License

Creative Commons Attribution 4.0 International

Assigned Domain

Subfield

Artificial Intelligence

Field

Computer Science

Domain

Physical Sciences

Confidence Score

65%

Source

Open Alex

Keywords

GeneticsFOS: Biological sciences

Normalization Factors

FT

57.69

CTw

1.00

MTw

1.00