Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.R308Q
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DHX37

NM_032656.4:p.R308Q

Associated Papers

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

Correction to: "An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review".

Unknown Author

Jcem Case Reports, 2025

An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review.

Turk Yilmaz RS et al.

Jcem Case Reports, 2025

DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives.

Shimura K et al.

Hormone Research in Paediatrics, 2025

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

Peng H 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

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

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Margiotti K et al.

Case Reports in Pediatrics, 2024

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

de Oliveira FR et al.

Life (basel, Switzerland), 2023

Monogenic Forms of DSD: An Update.

McElreavey K et al.

Hormone Research in Paediatrics, 2023

A novel DEAH-box helicase 37 mutation associated with differences of sex development.

Wan Y et al.

Frontiers in Endocrinology, 2023

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

Tack LJW et al.

Human Reproduction Open, 2023

Whole exome sequencing applied to 42 Han Chinese patients with posterior hypospadias.

Shaomei W et al.

Steroids, 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

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.

Zidoune H et al.

Frontiers in Genetics, 2022

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

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

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.

Buonocore F et al.

Journal of the Endocrine Society, 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."