RYR1 c.5458_5460delinsTGA ;(p.R1820*)

Variant ID: 19-38976753-CGC-TGA

NM_000540.2(RYR1):c.5458_5460delinsTGA;(p.R1820*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel West syndrome candidate genes in a Chinese cohort.

Cns Neuroscience & Therapeutics
Peng, Jing J; Wang, Ying Y; He, Fang F; Chen, Chen C; Wu, Li-Wen LW; Yang, Li-Fen LF; Ma, Yu-Ping YP; Zhang, Wen W; Shi, Zi-Qing ZQ; Chen, Chao C; Xia, Kun K; Guo, Hui H; Yin, Fei F; Pang, Nan N
Publication Date: 2018-12

Variant appearance in text: RYR1: R1820*
PubMed Link: 29667327
Variant Present in the following documents:
  • Main text
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