Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E101V
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LDLR

NM_000527.5:p.E101V

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.

He L et al.

Genes & Genomics, 2025

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Sun D et al.

Lipids in Health and Disease, 2018

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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."