Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D579A
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LDLR

NM_000527.5:p.D579A

Associated Papers

Functional analysis of six uncharacterised mutations in LDLR gene.

Gomez A et al.

Atherosclerosis, 2019

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.

Chater R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

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