Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.S5G
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PCSK9

NM_174936.4:p.S5G

Associated Papers

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Benito-Vicente A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.

Fidalgo T et al.

European Journal of Haematology, 2015

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.

Khamis A et al.

European Journal of Human Genetics : Ejhg, 2015

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