Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.R80S
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DMRT1

NM_021951.3:p.R80S

Associated Papers

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

Gao Y et al.

Human Reproduction Update, 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

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

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."