Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.H317L
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MCM8

NM_032485.6:p.H317L

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

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Structural study of the N-terminal domain of human MCM8/9 complex.

Li J et al.

Structure (london, England : 1993), 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

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

Zhang YX et al.

Molecular Genetics & Genomic Medicine, 2020

Premature Ovarian Insufficiency: Phenotypic Characterization Within Different Etiologies.

Jiao X et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency.

Dou X et al.

Fertility and Sterility, 2016

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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."