NAGS c.1435_1436delinsGC ;(p.N479A)

Variant ID: 17-42085125-AA-GC

NM_153006.2(NAGS):c.1435_1436delinsGC;(p.N479A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms.

Plos One
Zhao, Gengxiang G; Jin, Zhongmin Z; Allewell, Norma M NM; Tuchman, Mendel M; Shi, Dashuang D
Publication Date: 2013

Variant appearance in text: NAGS: N479A
PubMed Link: 23894642
Variant Present in the following documents:
  • Main text
  • pone.0070369.pdf
View BVdb publication page