Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q242*
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LDLR

NM_000527.5:p.Q242*

Associated Papers

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.

Turkyilmaz A et al.

Metabolic Syndrome and Related Disorders, 2021

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.

Ma Y et al.

Journal of Clinical Lipidology, 0

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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."