KEGG   VARIANT: 9455v1
Entry
9455v1                      Variant                                
Name
HOMER2 mutation
Type
Loss of function
Gene
HOMER2  homer scaffold protein 2 [KO:K15010]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604799
Network
nt06544  Neuroactive ligand signaling
Disease
H00604  Deafness, autosomal dominant
Reference
PMID:30047143
  Authors
Lu X, Wang Q, Gu H, Zhang X, Qi Y, Liu Y
  Title
Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.
  Journal
Clin Genet 94:419-428 (2018)
DOI:10.1111/cge.13422
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