Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A53G
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PCSK9

NM_174936.4:p.A53G

Associated Papers

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Lali R et al.

Nature Communications, 2021

34615865 (PubMed )
Supplement: 41467_2021_26114_MOESM2_ESM.pdf

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Kamar A et al.

Frontiers in Genetics, 2020

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.

Calandra S et al.

Current Opinion in Lipidology, 2017

Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.

Sjouke B et al.

Journal of Clinical Lipidology, 0

Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management.

Pasookhush P et al.

Journal of Clinical Lipidology, 0

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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."