Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D170V
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LDLR

NM_000527.5:p.D170V

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-1.xlsx › SuppTable1

Pharmacological chaperone therapy for Fabry disease.

Ishii S

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

Eng CM et al.

Molecular Medicine (cambridge, Mass.), 1997

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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."