Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.K70E
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HSD17B3

NM_000197.2:p.K70E

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

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.

Hassan HA 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."