KEGG   VARIANT: 6261v1
Entry
6261v1                      Variant                                
Name
RYR1 mutation
Type
Loss of function
Gene
RYR1  ryanodine receptor 1 [KO:K04961]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 180901
Network
nt06528  Calcium signaling
Disease
H01810  Congenital myopathy
Reference
PMID:30155320
  Authors
Laforgia N, Capozza M, De Cosmo L, Di Mauro A, Baldassarre ME, Mercadante F, Torella AL, Nigro V, Resta N
  Title
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
  Journal
Case Rep Genet 2018:6184185 (2018)
DOI:10.1155/2018/6184185
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