Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E277*
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LDLR

NM_000527.5:p.E277*

Associated Papers

Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2024

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Tada H et al.

Frontiers in Genetics, 2022

35480308 (PubMed )
Supplement: Presentation1.pdf
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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."