KEGG   VARIANT: 84189v1
Entry
84189v1                      Variant                               
Name
SLITRK6 mutation
Type
Loss of function
Gene
SLITRK6  SLIT and NTRK like family member 6 [KO:K25837]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609681
Network
nt06546  IgSF CAM signaling
Disease
H02355  Deafness and myopia
Reference
  Authors
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH
  Title
SLITRK6 mutations cause myopia and deafness in humans and mice.
  Journal
J Clin Invest 123:2094-102 (2013)
DOI:10.1172/JCI65853
Reference
  Authors
Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E, O'Reilly RC, Jinks RN, Puffenberger EG, Heaps A, Morton H, Strauss KA
  Title
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
  Journal
Laryngoscope 124:E95-103 (2014)
DOI:10.1002/lary.24361
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