Varaico: Literature-Extracted Genetic Variants

Gene:MCM9
Variant:p.A578Splc
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MCM9

NM_017696.3:p.A578Splc

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

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

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

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

The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.

Pal U et al.

Plos Genetics, 2021

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

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

Tucker EJ et al.

Endocrine Reviews, 2016

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

Su S et al.

Reproductive Biomedicine Online, 2016

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Wood-Trageser MA et al.

American Journal of Human Genetics, 2014

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."