Varaico: Literature-Extracted Genetic Variants

Gene:MSH4
Variant:p.K785_A786Splc
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MSH4

NM_002440.4:p.K785_A786Splc

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 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

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 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

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Turkyilmaz A et al.

Journal of Assisted Reproduction and Genetics, 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

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Carlosama C et al.

Human Molecular Genetics, 2017

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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."