Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A22fs
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LDLR

NM_000527.5:p.A22fs

Associated Papers

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

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

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."