RYR1 c.1373T>A ;(p.L458*)

Variant ID: 19-38943587-T-A

NM_000540.2(RYR1):c.1373T>A;(p.L458*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Anesthesiology
Fiszer, Dorota D; Shaw, Marie-Anne MA; Fisher, Nickla A NA; Carr, Ian M IM; Gupta, Pawan K PK; Watkins, Elizabeth J EJ; Roiz de Sa, Daniel D; Kim, Jerry H JH; Hopkins, Philip M PM
Publication Date: 2015-05

Variant appearance in text: MHS: 1373T>A
PubMed Link: 25658027
Variant Present in the following documents:
  • Main text
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