Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.E101K
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APOB

NM_000384.3:p.E101K

Associated Papers

Lipoprotein apheresis and PCSK9 inhibitors for severe familial hypercholesterolaemia: Experience from Australia and New Zealand.

Page MM et al.

Journal of Clinical Apheresis, 2021

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Gabčová D et al.

Physiological Research, 2017

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Thormaehlen AS et al.

Plos Genetics, 2015

25647241 (PubMed )
Supplement: pgen.1004855.s013.docx

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Whittall RA et al.

Annals of Clinical Biochemistry, 2010

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

Taylor A et al.

Clinical Genetics, 2007

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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."