Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.T81M
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HSD17B3

NM_000197.2:p.T81M

Associated Papers

Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.

Wang Y et al.

Frontiers in Endocrinology, 2023

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.

Krishnappa B et al.

Clinical Endocrinology, 2022

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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."