Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A55_T60del6
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PCSK9

NM_174936.4:p.A55_T60del6

Associated Papers

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD et al.

Human Mutation, 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."