Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A348insFs
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LDLR

NM_000527.5:p.A348insFs

Associated Papers

Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia.

Descamps OS et al.

European Journal of Clinical Investigation, 2003

Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.

Descamps OS et al.

European Journal of Clinical Investigation, 2001

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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."