Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.R111G
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DMRT1

NM_021951.3:p.R111G

Associated Papers

DMRT1 haploinsufficiency leads to secondary infertility in XY male rabbits†.

Barka I et al.

Biology of Reproduction, 2025

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

Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.

Emich J et al.

Fertility and Sterility, 2023

Monogenic Forms of DSD: An Update.

McElreavey K et al.

Hormone Research in Paediatrics, 2023

Genomics of sexual cell fate transdifferentiation in the mouse gonad.

Murphy MW et al.

G3 (bethesda, Md.), 2022

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

An ancient protein-DNA interaction underlying metazoan sex determination.

Murphy MW et al.

Nature Structural & Molecular Biology, 2015

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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."