Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.N224S
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DMRT1

NM_021951.3:p.N224S

Associated Papers

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

Gao Y et al.

Human Reproduction Update, 2026

Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.

Podgrajsek R et al.

The World Journal of Men's Health, 2025

39843174 (PubMed )
Supplement: wjmh-43-908-s001.pdf

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 variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.

Wang X et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › E_Mut_Pat.__4

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Araujo TF et al.

Andrology, 2020

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

Kolesinska Z et al.

Endocrine Connections, 2018

DMRT1 mutations are rarely associated with male infertility.

Tewes AC et al.

Fertility and Sterility, 2014

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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."