Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.R674W
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DHX37

NM_032656.4:p.R674W

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

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.

Zhang N et al.

Frontiers in Endocrinology, 2025

Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development.

Alabduljabbar A et al.

Frontiers in Endocrinology, 2025

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

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

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.

da Silva TE et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."