Bibliome.ai browser hg19
Search
About
Stats
FAQ
NAGS c.1313del ;(p.G438Afs*10)
Variant ID: 17-42084997-TG-T
NM_153006.2(
NAGS
):c.1313del;(p.G438Afs*10)
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: 1313delG; G438Afs
PubMed Link:
27570737
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page