Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.K35fs
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SRD5A2

NM_000348.4:p.K35fs

Associated Papers

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

Robevska G et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023

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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."