GAA c.502_503delinsTA ;(p.R168*)

Variant ID: 17-78078887-CG-TA

NM_000152.3(GAA):c.502_503delinsTA;(p.R168*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

Jimd Reports
Halbach, Nicky S J NS; Smeets, Eric E J EE; Bierau, Jörgen J; Keularts, Irene M L W IM; Plasqui, Guy G; Julu, Peter O O PO; Engerström, Ingegerd Witt IW; Bakker, Jaap A JA; Curfs, Leopold M G LM
Publication Date: 2012

Variant appearance in text: GAA: R168X
PubMed Link: 23430883
Variant Present in the following documents:
  • Main text
View BVdb publication page



A study of the treatment of Rett syndrome with folate and betaine.

Journal Of Child Neurology
Glaze, Daniel G DG; Percy, Alan K AK; Motil, Kathleen J KJ; Lane, Jane B JB; Isaacs, Janet S JS; Schultz, Rebecca J RJ; Barrish, Judy O JO; Neul, Jeffrey L JL; O'Brien, William E WE; Smith, E O'Brian EO
Publication Date: 2009-05

Variant appearance in text: GAA: R168X
PubMed Link: 19225139
Variant Present in the following documents:
  • Main text
View BVdb publication page