PCSK9 c.793_795delinsATG ;(p.L265M)

Variant ID: 1-55518458-CTC-ATG

NM_174936.3(PCSK9):c.793_795delinsATG;(p.L265M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.

Journal Of Lipid Research
Winther, Michael M; Shpitzen, Shoshi S; Yaacov, Or O; Landau, Jakob J; Oren, Limor L; Foroozan-Rosenberg, Linda L; Lev Cohain, Naama N; Schurr, Daniel D; Meiner, Vardiela V; Szalat, Auryan A; Carmi, Shai S; Hayden, Michael R MR; Leitersdorf, Eran E; Durst, Ronen R
Publication Date: 2019-10

Variant appearance in text: PCSK9: L265M
PubMed Link: 31387896
Variant Present in the following documents:
  • Main text
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