Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P105Splc
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LDLR

NM_000527.5:p.P105Splc

Associated Papers

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Wintjens R et al.

Journal of Lipid Research, 2016

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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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."