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NAGS c.1172T>G ;(p.L391R)
Variant ID: 17-42084766-T-G
NM_153006.2(
NAGS
):c.1172T>G;(p.L391R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
Molecular Genetics And Metabolism Reports
Al Kaabi, Eiman H EH; El-Hattab, Ayman W AW
Publication Date: 2016-09
Variant appearance in text: NAGS: L391R
PubMed Link:
27570737
Variant Present in the following documents:
main.pdf
View BVdb publication page