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NAGS c.1241G>C ;(p.R414P)
Variant ID: 17-42084835-G-C
NM_153006.2(
NAGS
):c.1241G>C;(p.R414P)
This variant was identified in 2 publications
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: R414P
PubMed Link:
27570737
Variant Present in the following documents:
main.pdf
View BVdb publication page
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
The Application Of Clinical Genetics
Ah Mew, Nicholas N; Caldovic, Ljubica L
Publication Date: 2011
Variant appearance in text: NAGS: R414P
PubMed Link:
23776373
Variant Present in the following documents:
Main text
tacg-4-127.pdf
View BVdb publication page