Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D221_K225insFs
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LDLR

NM_000527.5:p.D221_K225insFs

Associated Papers

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

Mollaki V et al.

Atherosclerosis, 2014

Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

Mollaki V et al.

Annals of Human Genetics, 2013

Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.

Mollaki V et al.

Journal of Clinical Lipidology, 0

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