Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.S91C
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SRY

NM_003140.3:p.S91C

Associated Papers

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.

Narita C et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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."