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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOB

Variant:p.L99M

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APOB

NM_000384.3:p.L99M

hg38:chr2:21041026 G>T

Associated Papers

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )

Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

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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."