Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.K396fs
Back to variants list

NR5A1

NM_004959.5:p.K396fs

Associated Papers

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.

Fabbri-Scallet H et al.

Human Mutation, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."