Varaico: Literature-Extracted Genetic Variants

Gene:MCM9
Variant:p.L224_E225Fs
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MCM9

NM_017696.3:p.L224_E225Fs

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

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

Goldberg Y et al.

Npj Genomic Medicine, 2021

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

Biswas L et al.

Reproduction (cambridge, England), 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

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

Liu Q et al.

Cancer Genetics, 2016

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.

Goldberg Y et al.

Cancer Genetics, 2015

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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."