Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.E94Q
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HSD3B2

NM_000198.4:p.E94Q

Associated Papers

Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.

Almaramhy HH et al.

Frontiers in Genetics, 2023

37384334 (PubMed )
Supplement: Table3.xls › Sheet2

Structural modeling and in silico analysis of non-synonymous single nucleotide polymorphisms of human 3β-hydroxysteroid dehydrogenase type 2.

Goswami AM

Meta Gene, 2015

Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response.

Johnson MM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

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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."