Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.A203T
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HSD17B3

NM_000197.2:p.A203T

Associated Papers

Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.

Jing H et al.

Clinical Genetics, 2026

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Bonnet E et al.

Endocrine Connections, 2023

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.

Yuan S et al.

Steroids, 2017

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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."