Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.S294N
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MUTYH

NM_001048174.2:p.S294N

Associated Papers

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.

Shinmura K et al.

Human Mutation, 2016

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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."