Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M195_H196insT
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FH

NM_000143.4:p.M195_H196insT

Associated Papers

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Korneva VA et al.

Kardiologiia, 2013

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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."