KEGG   VARIANT: 1288v1
Entry
1288v1                      Variant                                
Name
COL4A6 mutation
Gene
COL4A6  collagen type IV alpha 6 chain [KO:K06237]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 303631
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01209  Deafness, X-linked
Reference
PMID:23714752
  Authors
Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Muller CR, Kunstmann E
  Title
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
  Journal
Eur J Hum Genet 22:208-15 (2014)
DOI:10.1038/ejhg.2013.108
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