Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.K92*
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SRY

NM_003140.3:p.K92*

Associated Papers

Functional analysis of SRY variants in individuals with 46,XY differences of sex development.

Idris FP et al.

Molecular and Cellular Endocrinology, 2025

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.

De Sousa SM et al.

Bmc Endocrine Disorders, 2016

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

Okuhara K et al.

Journal of Human Genetics, 2000

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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."