Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.S310fs
Back to variants list

FDXR

NM_024417.5:p.S310fs

Associated Papers

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Stenton SL et al.

Human Mutation, 2021

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

Hornig NC et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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."