Varaico: Literature-Extracted Genetic Variants

Gene:MSH4
Variant:p.P638L
Back to variants list

MSH4

NM_002440.4:p.P638L

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

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 › ST4

Whole exome sequencing analysis of 167 men with primary infertility.

Zhou H et al.

Bmc Medical Genomics, 2024

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

Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.

Akbari A et al.

Human Reproduction (oxford, England), 2021

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

Krausz C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

The formation and repair of DNA double-strand breaks in mammalian meiosis.

Qu W et al.

Asian Journal of Andrology, 0

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."