Bibliome.ai browser hg19
Search
About
Stats
FAQ
ABR c.500A>G ;(p.Q167R)
Variant ID: 17-994936-T-C
NM_021962.3(
ABR
):c.500A>G;(p.Q167R)
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:
Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations.
Frontiers In Neuroscience
Hu, Wenjing W; Fang, Hongjun H; Peng, Yu Y; Li, Li L; Guo, Danni D; Tang, Jingwen J; Yi, Jurong J; Liu, Qingqing Q; Qin, Wei W; Wu, Liwen L; Ning, Zeshu Z
Publication Date: 2022
Variant appearance in text: ABR: 500A>G
PubMed Link:
36620461
Variant Present in the following documents:
Main text
View BVdb publication page