LDLR c.1228_1229delinsGA ;(p.R410E)

Variant ID: 19-11223995-AG-GA

NM_000527.4(LDLR):c.1228_1229delinsGA;(p.R410E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry
Susan-Resiga, Delia D; Girard, Emmanuelle E; Kiss, Robert Scott RS; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Awan, Zuhier Z; Butkinaree, Chutikarn C; Fleury, Alexandre A; Soldera, Armand A; Dory, Yves L YL; Baass, Alexis A; Seidah, Nabil G NG
Publication Date: 2017-02-03

Variant appearance in text: LDLR: R410E
PubMed Link: 27998977
Variant Present in the following documents:
  • Main text
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