Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.I244R
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HSD17B3

NM_000197.2:p.I244R

Associated Papers

17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.

Alikasifoglu A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

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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."