Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.R334W
Back to variants list

DHX37

NM_032656.4:p.R334W

Associated Papers

DHX37 variants in patients with 46,XY disorders or differences of sex development.

Katoh-Fukui Y et al.

Human Genome Variation, 2025

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

Peng H et al.

Frontiers in Endocrinology, 2025

Proteogenomic characterization of skull-base chordoma.

Zhang Q et al.

Nature Communications, 2024

39333076 (PubMed )
Supplement: 41467_2024_52285_MOESM5_ESM.xlsx › Supplementary_Data_2A

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

Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series.

Tack LJW et al.

Human Reproduction Open, 2023

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Zidoune H et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2021

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."