Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.N272_V273delFs
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LDLR

NM_000527.5:p.N272_V273delFs

Associated Papers

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.

Lombardi MP et al.

Genetic Testing, 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."