Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E208*
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LDLR

NM_000527.5:p.E208*

Associated Papers

Established and Emerging Nucleic Acid Therapies for Familial Hypercholesterolemia.

Damase TR et al.

Circulation, 2024

Pharmacotherapy in familial hypercholesterolemia - Current state and emerging paradigms.

Kallapur A et al.

Trends in Cardiovascular Medicine, 2023

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Homozygous familial hypercholesterolemia: what treatments are on the horizon?

Bajaj A et al.

Current Opinion in Lipidology, 2020

In Vivo AAV-CRISPR/Cas9-Mediated Gene Editing Ameliorates Atherosclerosis in Familial Hypercholesterolemia.

Zhao H et al.

Circulation, 2020

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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."