Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.L94R
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SRY

NM_003140.3:p.L94R

Associated Papers

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

Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report.

Xie C et al.

Bmc Pregnancy and Childbirth, 2023

A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene.

Xu K et al.

Translational Pediatrics, 2020

[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].

Xu ZY et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2020

[Partial DiGeorge syndrome caused by 22q11.2 typical microdeletion without cardiac defect: report of two cases].

He JX et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2014

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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."