Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.A3426V
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APOB

NM_000384.3:p.A3426V

Associated Papers

Genetic backgrounds and diagnosis of familial hypercholesterolemia.

Rogozik J et al.

Clinical Genetics, 2024

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Futema M et al.

Journal of Medical Genetics, 2014

24987033 (PubMed )
Supplement: jmedgenet-2014-102405-s1.pdf

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Futema M et al.

Journal of Medical Genetics, 2012

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