Varaico: Literature-Extracted Genetic Variants

Gene:MCM9
Variant:p.V229G
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MCM9

NM_017696.3:p.V229G

Associated Papers

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Helderman NC et al.

Hgg Advances, 2025

40684266 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Molecular functions of MCM8 and MCM9 and their associated pathologies.

Helderman NC et al.

Iscience, 2023

Structural study of the N-terminal domain of human MCM8/9 complex.

Li J et al.

Structure (london, England : 1993), 2021

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

Desai S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Wood-Trageser MA et al.

American Journal of Human Genetics, 2014

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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."