Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.N515N
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LDLR

NM_000527.5:p.N515N

Associated Papers

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M et al.

Metabolism: Clinical and Experimental, 2016

[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].

Tatishcheva IuA et al.

Genetika, 2001

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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."