Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.L1342insFs
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APC

NM_000038.6:p.L1342insFs

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Schumacher D et al.

Plos Genetics, 2019

30925167 (PubMed )
Supplement: pgen.1008076.s007.xlsx › S2_Table

LOH and copy neutral LOH (cnLOH) act as alternative mechanism in sporadic colorectal cancers with chromosomal and microsatellite instability.

Melcher R et al.

Carcinogenesis, 2011

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

Friedl W et al.

Gut, 2001

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

Wu G et al.

Genetic Testing, 2001

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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."