Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S791fs
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LDLR

NM_000527.5:p.S791fs

Associated Papers

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."