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.




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