PCSK9 c.142del ;(p.E48Rfs*35)

Variant ID: 1-55505652-CG-C

NM_174936.3(PCSK9):c.142del;(p.E48Rfs*35)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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; Rabès, 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: 142delG
PubMed Link: 21235735
Variant Present in the following documents:
  • Main text
  • 1750-1172-6-1.pdf
View BVdb publication page