Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1309_H1311delFs
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APC

NM_001127511.3:p.S1309_H1311delFs

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Rohlin A et al.

Oncogene, 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."