Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.I270T
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HSD3B2

NM_000198.4:p.I270T

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

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

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

Goswami AM

Meta Gene, 2015

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
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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."