Varaico: Literature-Extracted Genetic Variants

Gene:CBX2
Variant:p.R443P
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CBX2

NM_005189.3:p.R443P

Associated Papers

A rare case of 46,XY disorder of sex development with female phenotype: Case report and review of the literature.

Sun M et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025

Monogenic Forms of DSD: An Update.

McElreavey K et al.

Hormone Research in Paediatrics, 2023

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.

Bashamboo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

Human sex-determination and disorders of sex-development (DSD).

Bashamboo A et al.

Seminars in Cell & Developmental Biology, 2015

Gene mutations associated with anomalies of human gonad formation.

Bashamboo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

Biason-Lauber A et al.

American Journal of Human Genetics, 2009

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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."