NAGS c.1080G>T ;(p.E360D)

Variant ID: 17-42084061-G-T

NM_153006.2(NAGS):c.1080G>T;(p.E360D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.

Scientific Reports
Sonaimuthu, P P; Senkevitch, E E; Haskins, N N; Uapinyoying, P P; McNutt, M M; Morizono, H H; Tuchman, M M; Caldovic, L L
Publication Date: 2021-02-11

Variant appearance in text: NAGS: E360D
PubMed Link: 33574402
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82994.pdf
View BVdb publication page