Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E31D
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LDLR

NM_000527.5:p.E31D

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-5.xlsx › SuppTable5

Common mutations of the lipoprotein lipase gene and their clinical significance.

Gehrisch S

Current Atherosclerosis Reports, 1999

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

Lázaro C et al.

American Journal of Human Genetics, 1995

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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."