Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.P149R
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MCM8

NM_032485.6:p.P149R

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

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 2023

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

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.

Wang F et al.

Molecular Genetics & Genomic Medicine, 2020

MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.

Huang JW et al.

Nature Communications, 2020

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

Zhang YX et al.

Molecular Genetics & Genomic Medicine, 2020

The MCM8/9 complex: A recent recruit to the roster of helicases involved in genome maintenance.

Griffin WC et al.

Dna Repair, 2019

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

Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure.

Su S et al.

Reproductive Biomedicine Online, 2016

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S et al.

The Journal of Clinical Investigation, 2015

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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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."