Variant ID: 1-55505598-GCG-TTT

NM_174936.3(PCSK9):c.88_90delinsTTT;(p.A30F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Tanigawa, Yosuke Y; Wainberg, Michael M; Karjalainen, Juha J; Kiiskinen, Tuomo T; Venkataraman, Guhan G; Lemmelä, Susanna S; Turunen, Joni A JA; Graham, Robert R RR; Havulinna, Aki S AS; Perola, Markus M; Palotie, Aarno A; , ; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2020-05

Variant appearance in text: PCSK9: A30F
PubMed Link: 32369491
Variant Present in the following documents:
  • Main text
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