Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L101V
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SRY

NM_003140.3:p.L101V

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

Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.

Wang X et al.

Gene, 2018

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L et al.

Endocrine Connections, 2014

Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report.

Battaglia F et al.

The Journal of Obstetrics and Gynaecology Research, 2013

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