Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.V243_T245delFs
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HSD17B3

NM_000197.2:p.V243_T245delFs

Associated Papers

[Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in the HSD17B3 gene].

Kalinchenko NY et al.

Problemy Endokrinologii, 2024

Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.

Gonçalves CI et al.

International Journal of Molecular Sciences, 2022

36077423 (PubMed )
Supplement: ijms-23-10026-s001.zip › ijms-1813632-supplementary.pdf

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA et al.

Endocrine Connections, 2019

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

Kolesinska Z et al.

Endocrine Connections, 2018

Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors.

Mononen N et al.

Cancer Research, 2006

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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."