Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G464Splc
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FH

NM_000143.4:p.G464Splc

Associated Papers

A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia.

Tajamolian M et al.

Advanced Biomedical Research, 2018

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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."