Varaico: Literature-Extracted Genetic Variants

Gene:MSH4
Variant:p.K562delFs
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MSH4

NM_002440.4:p.K562delFs

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

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

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 control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

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

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Wyrwoll MJ et al.

Human Reproduction (oxford, England), 2021

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA et al.

Human Genetics, 2018

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