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NARS2 c.83_84del ;(p.L28Qfs*17)
Variant ID: 11-78285450-TCA-T
NM_024678.5(
NARS2
):c.83_84del;(p.L28Qfs*17)
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: NARS2: Leu28Glnfs
PubMed Link:
36620461
Variant Present in the following documents:
Main text
fnins-16-1076183.pdf
View BVdb publication page