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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APC

Variant:p.E1216K

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APC

NM_000038.6:p.E1216K

hg38:chr5:112839240 G>A

Associated Papers

Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

Huang C et al.

Journal of Clinical Laboratory Analysis, 2022

35470480 (PubMed )

Supplement: JCLA-36-e24459-s001.docx

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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."