Variant ID: 1-55521836-CTC-ATG

NM_174936.3(PCSK9):c.970_972delinsATG;(p.L324M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.

International Journal Of Molecular Sciences
Vanhoye, Xavier X; Janin, Alexandre A; Caillaud, Amandine A; Rimbert, Antoine A; Venet, Fabienne F; Gossez, Morgane M; Dijk, Wieneke W; Marmontel, Oriane O; Nony, Séverine S; Chatelain, Charlotte C; Durand, Christine C; Lindenbaum, Pierre P; Rieusset, Jennifer J; Cariou, Bertrand B; Moulin, Philippe P; Di Filippo, Mathilde M
Publication Date: 2022-04-13

Variant appearance in text: PCSK9: L324M
PubMed Link: 35457099
Variant Present in the following documents:
  • ijms-23-04281.pdf
View BVdb publication page