Variant ID: 1-55505553-C-CCTG

NM_174936.3(PCSK9):c.43_44insCTG;(p.L15delinsPV)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: 43_44insCTG
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Orphanet Journal Of Rare Diseases
Georges, Amandine A; Bonneau, Jessica J; Bonnefont-Rousselot, Dominique D; Champigneulle, Jacqueline J; Rab├Ęs, Jean P JP; Abifadel, Marianne M; Aparicio, Thomas T; Guenedet, Jean C JC; Bruckert, Eric E; Boileau, Catherine C; Morali, Alain A; Varret, Mathilde M; Aggerbeck, Lawrence P LP; Samson-Bouma, Marie E ME
Publication Date: 2011-01-14

Variant appearance in text: PCSK9: 43_44insCTG
PubMed Link: 21235735
Variant Present in the following documents:
  • Main text
View BVdb publication page