Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.W70*
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SRY

NM_003140.3:p.W70*

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

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

Assumpção JG et al.

Journal of Molecular Medicine (berlin, Germany), 2002

Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis.

Assumpção JG et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

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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."