PCSK9 c.427_428delinsCC ;(p.I143P)

Variant ID: 1-55512223-AT-CC

NM_174936.3(PCSK9):c.427_428delinsCC;(p.I143P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: I143P
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
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