Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.H492Y
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APC

NM_000038.6:p.H492Y

Associated Papers

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA et al.

Journal of Cancer Research and Clinical Oncology, 2009

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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."