Varaico: Literature-Extracted Genetic Variants

Gene:MCM9
Variant:p.E507D
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MCM9

NM_017696.3:p.E507D

Associated Papers

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf

Molecular functions of MCM8 and MCM9 and their associated pathologies.

Helderman NC et al.

Iscience, 2023

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

Golubicki M et al.

Jci Insight, 2020

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

Liu Q et al.

Cancer Genetics, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A049-01A.domain
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