Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R81L
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LDLR

NM_000527.5:p.R81L

Associated Papers

Resistance to conventional drug therapy and good response to lomitapide allowed the identification of a novel bi-allelic semi-dominant monogenic HoFH: a case report.

Fornengo P et al.

Current Medical Research and Opinion, 2025

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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."