Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.A145fs
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LDLRAP1

NM_015627.3:p.A145fs

Associated Papers

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Homozygous autosomal recessive hypercholesterolaemia in a South Asian child presenting with multiple cutaneous xanthomata.

Thadchanamoorthy V et al.

Annals of Clinical Biochemistry, 2021

Autosomal recessive hypercholesterolemia: update for 2020.

D'Erasmo L et al.

Current Opinion in Lipidology, 2020

Genetics of Familial Hypercholesterolemia: New Insights.

Vrablik M 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

Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).

Muntoni S 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."