Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A168T
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PCSK9

NM_174936.4:p.A168T

Associated Papers

Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia.

Reeskamp LF et al.

Jacc. Advances, 2023

38938725 (PubMed )
Supplement: mmc1.docx

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Benito-Vicente A et al.

International Journal of Molecular Sciences, 2018

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM et al.

Circulation. Cardiovascular Genetics, 2016

27784735 (PubMed )
Supplement: 001545_supplemental_material.pdf
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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."