Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P106R
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LDLR

NM_000527.5:p.P106R

Associated Papers

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

van der Graaf A et al.

Circulation, 2011

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW et al.

Human Genetics, 2001

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

Lombardi MP et al.

Clinical Genetics, 2000

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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."