NAGS c.683A>G ;(p.E228G)

Variant ID: 17-42083261-A-G

NM_153006.2(NAGS):c.683A>G;(p.E228G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: NAGS: *767+1G>A; Glu228Gly
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page