PRRT2 c.490del ;(p.E164Rfs*12)

Variant ID: 16-29824863-AG-A

NM_145239.2(PRRT2):c.490del;(p.E164Rfs*12)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.

Frontiers In Molecular Neuroscience
Jiang, Tiejia T; Gao, Jia J; Jiang, Lihua L; Xu, Lu L; Zhao, Congying C; Su, Xiaojun X; Shen, Yaping Y; Gu, Weiyue W; Kong, Xiaohong X; Yang, Ying Y; Gao, Feng F
Publication Date: 2021

Variant appearance in text: PRRT2: 489delG
PubMed Link: 34489640
Variant Present in the following documents:
  • Main text
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