Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.S202insFs
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LDLRAP1

NM_015627.3:p.S202insFs

Associated Papers

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

Kamar A et al.

Frontiers in Genetics, 2020

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.

Fellin R et al.

Gene, 2015

A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

Tada H et al.

Atherosclerosis, 2011

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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."