Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D477fs
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LDLR

NM_000527.5:p.D477fs

Associated Papers

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Abul-Husn NS et al.

Science (new York, N.y.), 2016

28008010 (PubMed )
Supplement: aaf7000-abul-husn-sm.pdf
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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."