Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.H601R
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MCM8

NM_032485.6:p.H601R

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

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."