Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.K30Splc
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LDLRAP1

NM_015627.3:p.K30Splc

Associated Papers

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

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A et al.

Atherosclerosis. Supplements, 2017

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.

Lind S et al.

Journal of Internal Medicine, 2004

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Cohen JC et al.

Current Opinion in Lipidology, 2003

Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

Bamimore MA 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."