Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C329C
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LDLR

NM_000527.5:p.C329C

Associated Papers

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

Ward KJ et al.

Lipids in Health and Disease, 2006

Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.

Rinat C et al.

Journal of the American Society of Nephrology : Jasn, 1999

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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."