Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.C1578delFs
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APC

NM_000038.6:p.C1578delFs

Associated Papers

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Functional characterization of CNOT3 variants identified in familial adenomatous polyposis adenomas.

Delacruz RGC et al.

Oncotarget, 2019

31231471 (PubMed )
Supplement: oncotarget-10-3939-s001.pdf

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Hovelson DH et al.

Oncotarget, 2017

29163793 (PubMed )
Supplement: oncotarget-08-89848-s005.xlsx › TableS4

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA et al.

Journal of Cancer Research and Clinical Oncology, 2009

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 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."