Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.D58E
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SRY

NM_003140.3:p.D58E

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

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

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

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

Hallast P et al.

Molecular Biology and Evolution, 2015

25468874 (PubMed )
Supplement: supp_msu327_Hallast_TablesS1-3_5-11Revised281014.xls › TableS9

Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation.

Premi S et al.

Molecular Human Reproduction, 2006

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