Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q999*
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APC

NM_000038.6:p.Q999*

Associated Papers

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Multiple hepatoblastomas with positive β-catenin immunostaining as a potential indication for germline APC genetic testing: A case report.

Sato T et al.

Congenital Anomalies, 2024

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Mutation spectrum of the APC gene in 83 Korean FAP families.

Kim DW et al.

Human Mutation, 2005

Accumulating Genetic Mutations from Primary to Secondary Biliary Tract Cancers: Analysis of Four Patients With Metachronous Biliary Tract Cancer Using Comprehensive Genomic Profiling.

Kokuryo T et al.

Cancer Genomics & Proteomics, 0

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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."