PMID: 35625781

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents.

Biomedicines
Mainieri, Francesca F, Tagi, Veronica Maria VM, Chiarelli, Francesco F
2022-04-30

2 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -