KEGG   VARIANT: 10083v1
Entry
10083v1                      Variant                               
Name
USH1C mutation
Type
Loss of function
Gene
USH1C  harmonin isoform a [KO:K21877]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605242
Network
nt06549  Cadherin signaling
Disease
H00605  Deafness, autosomal recessive
H00779  Usher syndrome
Reference
  Authors
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B
  Title
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
  Journal
Nat Genet 26:56-60 (2000)
DOI:10.1038/79178
Reference
  Authors
Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER
  Title
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
  Journal
Hum Genet 110:527-31 (2002)
DOI:10.1007/s00439-002-0732-4
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