Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E267*
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LDLR

NM_000527.5:p.E267*

Associated Papers

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Huang CC et al.

Journal of Atherosclerosis and Thrombosis, 2022

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

Guardamagna O et al.

The Journal of Pediatrics, 2009

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2000

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.

Bertolini S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 1999

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR 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."