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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOB

Variant:p.R490_V491Splc

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APOB

NM_000384.3:p.R490_V491Splc

hg38:chr2:21029791 T>C

Associated Papers

Carriage of rare APOB variants predisposes to severe steatotic liver disease and hepatocellular carcinoma.

Mureddu M et al.

The Journal of Clinical Investigation, 2026

41665936 (PubMed )

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Henry Z et al.

Atherosclerosis, 2025

40367726 (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."