Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.Y84C
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DMRT1

NM_021951.3:p.Y84C

Associated Papers

Genetic insights into hypospadias in the Taiwanese population: a Whole-Exome Sequencing study in a single center.

Chou CM et al.

Journal of Pediatric Surgery, 2026

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.

Marić T et al.

Human Molecular Genetics, 2025

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

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

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Fan Y et al.

Scientific Reports, 2017

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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."