GLA c.65T>G ;(p.V22G)

Variant ID: X-100662827-A-C

NM_000169.2(GLA):c.65T>G;(p.V22G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences
Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P
Publication Date: 2018-11-23

Variant appearance in text: GLA: V22G
PubMed Link: 30477121
Variant Present in the following documents:
  • Main text
  • ijms-19-03726.pdf
View BVdb publication page