Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.G504W
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PCSK9

NM_174936.4:p.G504W

Associated Papers

Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.

Hori M et al.

Atherosclerosis, 2019

Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.

Ohta N et al.

Journal of Clinical Lipidology, 0

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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."