Ying-Chang. Lu, et.al., Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice., PloS one, 2014, 8

http://rdf.ncbi.nlm.nih.gov/pubmed/23755160

Ying-Chang. Lu, et.al., Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice., PloS one, 2014, 8

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Slc26a4<tm2.1Dontu>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5529273

class

http://purl.org/net/cito/citesAsAuthority

• Slc26a4<tm2.1Dontu>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5529273

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal endolymphatic duct morphology_Slc26a4<tm1.1Dontu>/Slc26a4<tm1.1Dontu>
  http://metadb.riken.jp/0006011I129S1Sv129X1SvJSlc26a4tm11DontuSlc26a4tm11DontuSlc26a4tm11Dontu
• dilated scala media_Slc26a4<tm1.1Dontu>/Slc26a4<tm1.1Dontu>
  http://metadb.riken.jp/0008309I129S1Sv129X1SvJSlc26a4tm11DontuSlc26a4tm11DontuSlc26a4tm11Dontu
• stria vascularis degeneration_Slc26a4<tm1.1Dontu>/Slc26a4<tm1.1Dontu>
  http://metadb.riken.jp/0004363I129S1Sv129X1SvJSlc26a4tm11DontuSlc26a4tm11DontuSlc26a4tm11Dontu
• cochlear hair cell degeneration_Slc26a4<tm1.1Dontu>/Slc26a4<tm1.1Dontu>
  http://metadb.riken.jp/0004362I129S1Sv129X1SvJSlc26a4tm11DontuSlc26a4tm11DontuSlc26a4tm11Dontu