Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.T490_L491insFs
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MCM8

NM_032485.6:p.T490_L491insFs

Associated Papers

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

Helderman NC et al.

Hgg Advances, 2025

40684266 (PubMed )
Supplement: mmc1.pdf

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

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

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.

Bouali N et al.

Fertility and Sterility, 2017

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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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."