Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.S255L
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HSD17B3

NM_000197.2:p.S255L

Associated Papers

Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence.

Sridhar S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2026

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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."