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.




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
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