Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.V2384_K2385delFs
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APOB

NM_000384.3:p.V2384_K2385delFs

Associated Papers

Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.

Schwantes-An TH et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2026

41514510 (PubMed )
Supplement: LIV-46-0-s001.xlsx › Table_S1

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Oetjens MT et al.

Nature Communications, 2019

31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants
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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."