Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.K651_V652Splc
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MCM8

NM_032485.6:p.K651_V652Splc

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Helderman NC et al.

Hgg Advances, 2025

40684266 (PubMed )
Supplement: mmc1.pdf

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

Li K et al.

Human Reproduction Update, 2025

A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.

Dong J et al.

Journal of Assisted Reproduction and Genetics, 2025

Investigation of an MCM8 gene variant in women with premature ovarian insufficiency.

Rabello BXC et al.

Einstein (sao Paulo, Brazil), 2024

Molecular functions of MCM8 and MCM9 and their associated pathologies.

Helderman NC et al.

Iscience, 2023

Meiosis interrupted: the genetics of female infertility via meiotic failure.

Biswas L et al.

Reproduction (cambridge, England), 2021

Genetic Determinants of Premature Menopause in A Mashhad Population Cohort.

Mirinezhad MR et al.

International Journal of Fertility & Sterility, 2021

Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.

Zhang YX et al.

Molecular Genetics & Genomic Medicine, 2020

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Tenenbaum-Rakover Y et al.

Journal of Medical Genetics, 2015

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