Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q474fs
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LDLR

NM_000527.5:p.Q474fs

Associated Papers

The study of familial hypercholesterolemia in Italy: A narrative review.

Bertolini S et al.

Atherosclerosis. Supplements, 2017

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A et al.

Atherosclerosis. Supplements, 2017

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Gabčová D et al.

Physiological Research, 2017

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S et al.

Atherosclerosis, 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."