Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.A492P
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DHX37

NM_032656.4:p.A492P

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

NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Naamneh Elzenaty R et al.

International Journal of Molecular Sciences, 2024

39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf

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

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

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

Gomes NL et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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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."