Varaico: Literature-Extracted Genetic Variants

Gene:MCM9
Variant:p.E495*
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MCM9

NM_017696.3:p.E495*

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

Molecular functions of MCM8 and MCM9 and their associated pathologies.

Helderman NC et al.

Iscience, 2023

MCM9 is associated with germline predisposition to early-onset cancer-clinical evidence.

Goldberg Y et al.

Npj Genomic Medicine, 2021

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Shen J et al.

Journal of Assisted Reproduction and Genetics, 2021

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

Biswas L et al.

Reproduction (cambridge, England), 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.

Terradas M et al.

Human Mutation, 2019

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

Desai S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.

Tucker EJ et al.

Endocrine Reviews, 2016

Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients.

Liu Q et al.

Cancer Genetics, 2016

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.

Fauchereau F et al.

Clinical Genetics, 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."