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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOA5

Variant:p.Q127_Q128insFs

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APOA5

NM_001371904.1:p.Q127_Q128insFs

hg38:chr11:116790848 C>CA

Associated Papers

PhenCode: connecting ENCODE data with mutations and phenotype.

Giardine B et al.

Human Mutation, 2007

17326095 (PubMed )

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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."