LDLR c.247A>G ;(p.I83V)

Variant ID: 19-11213396-A-G

NM_000527.4(LDLR):c.247A>G;(p.I83V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.

Journal Of Lipid Research
Groenen, Anouk G AG; La Rose, Anouk M AM; Li, Mengying M; Bazioti, Venetia V; Svendsen, Arthur F AF; Kloosterhuis, Niels J NJ; Ausema, Albertina A; Pranger, Alle A; Heiner-Fokkema, M Rebecca MR; Niezen-Koning, Klary E KE; Houben, Tom T; Shiri-Sverdlov, Ronit R; Westerterp, Marit M
Publication Date: 2022-02

Variant appearance in text: LDLR: 247A>G
PubMed Link: 35007562
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page