Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D129_G137del0
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LDLR

NM_000527.5:p.D129_G137del0

Associated Papers

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

Diakou M et al.

European Journal of Internal Medicine, 2011

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

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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."