KEGG   VARIANT: 375790v1
Entry
375790v1                      Variant                              
Name
AGRN mutation
Type
Loss of function
Gene
AGRN  agrin [KO:K06254]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 103320
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00770  Congenital myasthenic syndrome
Reference
PMID:30994901
  Authors
Rudell JB, Maselli RA, Yarov-Yarovoy V, Ferns MJ
  Title
Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.
  Journal
Hum Mol Genet 28:2648-2658 (2019)
DOI:10.1093/hmg/ddz081
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