Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.H144insFs
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LDLRAP1

NM_015627.3:p.H144insFs

Associated Papers

Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Bruckert E et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2022

36325897 (PubMed )
Supplement: atv-42-1447-s001.pdf

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study.

D'Erasmo L et al.

Frontiers in Genetics, 2022

Lomitapide does not alter PCSK9 and Lp(a) levels in homozygous familial hypercholesterolemia patients: Analysis on cytokines and lipid profile.

Lupo MG et al.

Atherosclerosis Plus, 2021

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.

Nikasa P et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021

Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.

Martinsen MH 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."