Variant ID: 1-55512251-A-C

NM_174936.3(PCSK9):c.455A>C;(p.Q152P)

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: Q152P
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
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