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NAGS c.869T>C ;(p.I290T)
Variant ID: 17-42083559-T-C
NM_153006.2(
NAGS
):c.869T>C;(p.I290T)
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:
Integrative analysis of multi-omics data reveals the heterogeneity and signatures of immune therapy for small cell lung cancer.
Clinical And Translational Medicine
Chen, Yabin Y; Fang, Zhaoyuan Z; Tang, Ying Y; Jin, Yujuan Y; Guo, Chenchen C; Hu, Liang L; Xu, Yang Y; Ma, Xidong X; Gao, Jie J; Xie, Mei M; Zang, Xuelei X; Liu, Sanhong S; Chen, Haiquan H; Thomas, Roman K RK; Xue, Xinying X; Ji, Hongbin H; Chen, Luonan L
Publication Date: 2021-12
Variant appearance in text: NAGS: I290T
PubMed Link:
34923768
Variant Present in the following documents:
CTM2-11-e620-s006.xlsx, sheet 2
View BVdb publication page
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Orphanet Journal Of Rare Diseases
Bijarnia-Mahay, Sunita S; Häberle, Johannes J; Jalan, Anil B AB; Puri, Ratna Dua RD; Kohli, Sudha S; Kudalkar, Ketki K; Rüfenacht, Véronique V; Gupta, Deepti D; Maurya, Deepshikha D; Verma, Jyotsna J; Shigematsu, Yosuke Y; Yamaguchi, Seiji S; Saxena, Renu R; Verma, Ishwar C IC
Publication Date: 2018-10-01
Variant appearance in text: NAGS: 869T>C; Ile290Thr
PubMed Link:
30285816
Variant Present in the following documents:
13023_2018_Article_908.pdf
View BVdb publication page