Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S299delFs
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APC

NM_000038.6:p.S299delFs

Associated Papers

APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.

Takao M et al.

International Journal of Clinical Oncology, 2021

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM4_ESM.xlsx › Suppl._Table_3

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

Spier I et al.

Journal of Medical Genetics, 2016

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ et al.

Gut, 2008

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.

Gavert N et al.

Human Mutation, 2002

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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."