Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.R115Splc
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LDLRAP1

NM_015627.3:p.R115Splc

Associated Papers

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Yazıcı H et al.

Journal of Clinical Lipidology, 2025

Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.

Raal F et al.

Circulation, 2024

37850379 (PubMed )
Supplement: cir-149-354-s001.pdf

A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia

Ahangari N et al.

Iranian Biomedical Journal, 2021

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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."