Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.N1979fs
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APC

NM_000038.6:p.N1979fs

Associated Papers

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end.

Disciglio V et al.

Journal of Medical Genetics, 2020

31591141 (PubMed )
Supplement: jmedgenet-2019-106299supp001.pdf

Functional characterization of CNOT3 variants identified in familial adenomatous polyposis adenomas.

Delacruz RGC et al.

Oncotarget, 2019

31231471 (PubMed )
Supplement: oncotarget-10-3939-s001.pdf

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
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