Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Q219_A220Splc
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PCSK9

NM_174936.4:p.Q219_A220Splc

Associated Papers

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Di Leo E et al.

Molecular Genetics and Metabolism, 2009

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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."