Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L101H
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SRY

NM_003140.3:p.L101H

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

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

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.

Roberts J et al.

American Journal of Medical Genetics. Part A, 2018

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL et al.

Molecular Genetics and Metabolism, 2002

Mutations in SRY and SOX9: testis-determining genes.

Cameron FJ et al.

Human Mutation, 1997

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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."