Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.F1822Y
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APC

NM_001127511.3:p.F1822Y

Associated Papers

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Blackburn PR et al.

Hgg Advances, 2020

35047830 (PubMed )
Supplement: mmc2.xlsx › SL2197-GeneticAnalysis-5_2_0803

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.

Yamaguchi K et al.

Scientific Reports, 2016

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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."