Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E101delFs
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LDLR

NM_000527.5:p.E101delFs

Associated Papers

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

Alharbi KK et al.

Genome Research, 2005

Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning.

Smith MJ et al.

Clinical Chemistry, 2005

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