Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.L449L
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MUTYH

NM_001048172.2:p.L449L

Associated Papers

Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.

Xiao F et al.

Biomolecules, 2023

36979362 (PubMed )
Supplement: biomolecules-13-00429-s001.zip › Table_S1._Human_MUTYH_variants_used_in_the_study.xlsx › Sheet1

Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Liu WQ et al.

Molecular Medicine Reports, 2018

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