Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.A473D
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MUTYH

NM_001128425.2:p.A473D

Associated Papers

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy

Mahasneh A et al.

Iranian Biomedical Journal, 2019

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

Pin E et al.

International Journal of Cancer, 2013

MUTYH-associated polyposis (MAP).

Nielsen M et al.

Critical Reviews in Oncology/hematology, 2011

Leiden Open Variation Database of the MUTYH gene.

Out AA et al.

Human Mutation, 2010

[From gene to disease; MutYH-associated polyposis coli (MAP)].

Nielsen M et al.

Nederlands Tijdschrift Voor Geneeskunde, 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."