Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.A396insFs
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MUTYH

NM_012222.3:p.A396insFs

Associated Papers

MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.

Lefevre JH et al.

Familial Cancer, 2010

Familial adenomatous polyposis.

Half E et al.

Orphanet Journal of Rare Diseases, 2009

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Gómez-Fernández N et al.

Bmc Medical Genetics, 2009

MUTYH Associated Polyposis (MAP).

Poulsen ML et al.

Current Genomics, 2008

A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

Alhopuro P et al.

Human Mutation, 2005

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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."