Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D47_G48del0
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LDLR

NM_000527.5:p.D47_G48del0

Associated Papers

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Smyth N et al.

Current Opinion in Lipidology, 2018

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

Ezetimibe in the management of homozygous familial hypercholesterolaemia.

Mansfield BS et al.

Journal of Clinical Lipidology, 0

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