Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E615_D616Splc
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LDLR

NM_000527.5:p.E615_D616Splc

Associated Papers

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

Widhalm K et al.

Journal of Inherited Metabolic Disease, 2007

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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."