Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A391A
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LDLR

NM_000527.5:p.A391A

Associated Papers

Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates.

Lunghi B et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.

Sorrentino V et al.

European Heart Journal, 2013

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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."