Varaico: Literature-Extracted Genetic Variants

Gene:MCM8
Variant:p.K635_V636Splc
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MCM8

NM_182802.3:p.K635_V636Splc

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

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.2.2-ClassUnknown_Splice

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

Tucker EJ et al.

European Journal of Human Genetics : Ejhg, 2022

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