Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S306*
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LDLR

NM_000527.5:p.S306*

Associated Papers

Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients.

Víšek J et al.

Orphanet Journal of Rare Diseases, 2021

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L et al.

Atherosclerosis, 2012

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Mihaylov VA et al.

Journal of Human Genetics, 2004

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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."