Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.E254delFs
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HSD17B3

NM_000197.2:p.E254delFs

Associated Papers

Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients.

Manyas H et al.

Andrologia, 2021

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

Alikaşifoğlu A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2015

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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."