Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R218K
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PCSK9

NM_174936.4:p.R218K

Associated Papers

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Katsanis N et al.

Human Genomics, 2025

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20
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