Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L163*
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SRY

NM_003140.3:p.L163*

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

Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.

Racca JD et al.

Frontiers in Endocrinology, 2022

36568077 (PubMed )
Supplement: DataSheet_1.pdf

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Knower KC et al.

Plos One, 2011

Human SRY inhibits beta-catenin-mediated transcription.

Bernard P et al.

The International Journal of Biochemistry & Cell Biology, 2008

Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.

Shahid M et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.

Baldazzi L et al.

Clinical Genetics, 2003

Mutations in SRY and SOX9: testis-determining genes.

Cameron FJ et al.

Human Mutation, 1997

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