Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E714Splc
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LDLR

NM_000527.5:p.E714Splc

Associated Papers

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Heath KE et al.

European Journal of Human Genetics : Ejhg, 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."