Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C392fs
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LDLR

NM_000527.5:p.C392fs

Associated Papers

A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.

Lin CF et al.

Journal of Clinical Lipidology, 2026

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Huang CC et al.

Journal of Atherosclerosis and Thrombosis, 2022

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR 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."