Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A478T
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PCSK9

NM_174936.4:p.A478T

Associated Papers

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman AZ et al.

International Journal of Molecular Sciences, 2022

36499307 (PubMed )
Supplement: ijms-23-14971-s001.zip › ijms-1968050-supplementary.pdf

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

Hori M et al.

Atherosclerosis, 2019

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