Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.H410insFs
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MUTYH

NM_001048174.2:p.H410insFs

Associated Papers

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.

Kashfi SM et al.

Gastroenterology and Hepatology From Bed to Bench, 2013

High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

Abdelmaksoud-Dammak R et al.

Familial Cancer, 2012

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

Win AK et al.

International Journal of Cancer, 2011

Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis.

Win AK et al.

Familial Cancer, 2011

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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."