Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E408fs
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LDLR

NM_000527.5:p.E408fs

Associated Papers

Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients.

Miyama H et al.

Cardiology Research and Practice, 2023

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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."