Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.G1030E
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DHX37

NM_032656.4:p.G1030E

Associated Papers

Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development.

Peng H et al.

Frontiers in Endocrinology, 2025

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development.

Jiang W et al.

Molecular Genetics & Genomic Medicine, 2024

DHX37 and the Implications in Disorders of Sex Development: An Update Review.

de Oliveira FR et al.

Hormone Research in Paediatrics, 2024

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.

de Oliveira FR et al.

Life (basel, Switzerland), 2023

37240737 (PubMed )
Supplement: life-13-01093-s001.zip › Table_S1._Variants_described_so_far_in_published_articles.pdf

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

Globa E et al.

Frontiers in Endocrinology, 2022

DHX37 and 46,XY DSD: A New Ribosomopathy?

McElreavey K et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

McElreavey K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."