Varaico: Literature-Extracted Genetic Variants

Gene:STARD3
Variant:p.A247V
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STARD3

NM_006804.4:p.A247V

Associated Papers

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

Mazen I et al.

American Journal of Medical Genetics. Part A, 2021

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

Mazen I et al.

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

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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."