Variant ID: 1-55505652-CG-C


This variant was identified in 1 publication

View GRCh38 version.


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: 142delG
PubMed Link: 21235735
Variant Present in the following documents:
  • Main text
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