Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.Q96*
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SRD5A3

NM_024592.5:p.Q96*

Associated Papers

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.

Khan AO

Retina (philadelphia, Pa.), 2020

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

Kousal B et al.

Folia Biologica, 2019

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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."