Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.D331H
Back to variants list

DMRT1

NM_021951.3:p.D331H

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 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

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST6

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

Emich J et al.

Fertility and Sterility, 2023

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table

DMRT1 mutations are rarely associated with male infertility.

Tewes AC et al.

Fertility and Sterility, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."