Varaico: Literature-Extracted Genetic Variants

Gene:MCM9
Variant:p.M1096V
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MCM9

NM_017696.3:p.M1096V

Associated Papers

Molecular functions of MCM8 and MCM9 and their associated pathologies.

Helderman NC et al.

Iscience, 2023

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

Golubicki M et al.

Jci Insight, 2020

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

Desai S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Liu Q et al.

Cancer Genetics, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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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."