Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E151delFs
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APC

NM_000038.6:p.E151delFs

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

Juvenile Nasopharyngeal Angiofibroma and Familial Adenomatous Polyposis.

Pegues J et al.

Ear, Nose, & Throat Journal, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Germline APC mutations in hepatoblastoma.

Yang A et al.

Pediatric Blood & Cancer, 2018

Multifocal hepatic neoplasia in 3 children with APC gene mutation.

Gupta A et al.

The American Journal of Surgical Pathology, 2013

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."