Varaico: Literature-Extracted Genetic Variants

Gene:STARD8
Variant:p.S993N
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STARD8

NM_001142503.3:p.S993N

Associated Papers

Monogenic Forms of DSD: An Update.

McElreavey K et al.

Hormone Research in Paediatrics, 2023

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis.

Sirokha D et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023

A conserved function of Human DLC3 and Drosophila Cv-c in testis development.

Sotillos S et al.

Elife, 2022

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.

Ilaslan E et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2018

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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."