RYR1 c.5125G>C ;(p.G1709R)

Variant ID: 19-38976420-G-C

NM_000540.2(RYR1):c.5125G>C;(p.G1709R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Congenital myasthenic syndromes in 2012.

Current Neurology And Neuroscience Reports
Engel, Andrew G AG
Publication Date: 2012-02

Variant appearance in text: RYR1: G1709R
PubMed Link: 21997714
Variant Present in the following documents:
  • Main text
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