GLA c.1132T>C ;(p.C378R)

Variant ID: X-100652955-A-G

NM_000169.2(GLA):c.1132T>C;(p.C378R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease.

Genes
Maier, Nadine N; Gatterer, Constantin C; Haider, Patrick P; Salzmann, Manuel M; Kaun, Christoph C; Speidl, Walter S WS; Sunder-Plassmann, Gere G; Podesser, Bruno K BK; Wojta, Johann J; Graf, Senta S; Lenz, Max M; Hohensinner, Philipp J PJ
Publication Date: 2021-07-30

Variant appearance in text: GLA: 1132T>C; Cys378Arg
PubMed Link: 34440358
Variant Present in the following documents:
  • genes-12-01184.pdf
View BVdb publication page



Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 1132T>C; C378R
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.pdf
View BVdb publication page