Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.L143fs
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APC

NM_000038.6:p.L143fs

Associated Papers

Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.

Oh E et al.

Clinical Genitourinary Cancer, 2025

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Burkitt-like lymphoma in a pediatric patient with familial adenomatous polyposis.

Strobel KM et al.

Cancer Genetics, 2019

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM1_ESM.xlsx › Tabelle1

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

Pritchard CC et al.

The Journal of Molecular Diagnostics : Jmd, 2012

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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."