KEGG   VARIANT: 203859v1
Entry
203859v1                      Variant                              
Name
ANO5 mutation
Type
Loss of function
Gene
ANO5  anoctamin 5 [KO:K19480]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608662
Network
nt06535  Efferocytosis
Disease
H00498  Gnathodiaphyseal dysplasia
H00593  Limb-girdle muscular dystrophy
H01965  Miyoshi muscular dystrophy
Reference
PMID:17418107
  Authors
Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M
  Title
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
  Journal
Biochem Biophys Res Commun 357:126-32 (2007)
DOI:10.1016/j.bbrc.2007.03.108
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