Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E317fs
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LDLR

NM_000527.5:p.E317fs

Associated Papers

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

Jannes CE et al.

Atherosclerosis, 2015

Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.

Santos PC et al.

Atherosclerosis, 2014

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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."