Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D301N
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LDLR

NM_000527.5:p.D301N

Associated Papers

Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family.

Pamplona-Cunha H et al.

Clinical Chemistry and Laboratory Medicine, 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."