Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G218D
Back to variants list

LDLR

NM_000527.5:p.G218D

Associated Papers

Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries.

Alieva A et al.

European Journal of Internal Medicine, 2024

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Whittall RA et al.

Annals of Clinical Biochemistry, 2010

Myeloperoxidase gene sequence variations are associated with low-density-lipoprotein characteristics.

Dolley G et al.

Journal of Human Genetics, 2008

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Chora JR et al.

Journal of Clinical Lipidology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."