RYR1 c.4639C>T ;(p.L1547=)

Variant ID: 19-38973685-C-T

NM_000540.2(RYR1):c.4639C>T;(p.L1547=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Neurology. Genetics
Tian, Xia X; Liang, Wen-Chen WC; Feng, Yanming Y; Wang, Jing J; Zhang, Victor Wei VW; Chou, Chih-Hung CH; Huang, Hsien-Da HD; Lam, Ching Wan CW; Hsu, Ya-Yun YY; Lin, Thy-Sheng TS; Chen, Wan-Tzu WT; Wong, Lee-Jun LJ; Jong, Yuh-Jyh YJ
Publication Date: 2015-08

Variant appearance in text: RYR1: 4639C>T
PubMed Link: 27066551
Variant Present in the following documents:
  • Main text
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