KEGG   VARIANT: 10398v1
Entry
10398v1                      Variant                               
Name
MYL9 mutation
Gene
MYL9  myosin light chain 9 [KO:K12755]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609905
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
Reference
PMID:29453416
  Authors
Moreno CA, Sobreira N, Pugh E, Zhang P, Steel G, Torres FR, Cavalcanti DP
  Title
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.
  Journal
Eur J Hum Genet 26:669-675 (2018)
DOI:10.1038/s41431-017-0055-5
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