Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.I228T
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APOB

NM_000384.3:p.I228T

Associated Papers

Novel APOB variant causes familial hypercholesterolemia in multiple unrelated families.

Berthold A et al.

Journal of Clinical Lipidology, 2026

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Gandhi GD et al.

Journal of Translational Medicine, 2022

36329474 (PubMed )
Supplement: 12967_2022_3697_MOESM1_ESM.docx

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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