Varaico: Literature-Extracted Genetic Variants

Gene:MSH4
Variant:p.Q518*
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MSH4

NM_002440.4:p.Q518*

Associated Papers

The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.

Podgrajsek R et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

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

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

A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia.

Hashemi Sheikhshabani S et al.

Molecular Biology Reports, 2024

Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve.

Wan Y et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

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

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.

Xie C et al.

Human Reproduction Update, 2022

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.

Li P et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

A novel homozygous mutation in the meiotic gene MSH4 leading to male infertility due to non-obstructive azoospermia.

Tang D et al.

American Journal of Translational Research, 2020

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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."