Veronique. Pingault, et.al., Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness., American journal of human genetics, 2013, 92

http://rdf.ncbi.nlm.nih.gov/pubmed/23643381

Veronique. Pingault, et.al., Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness., American journal of human genetics, 2013, 92

pubmed

表現型アノテーション

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

• abnormal glial cell morphology_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0003634I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg
• abnormal axon guidance_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0002961I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg
• abnormal axon fasciculation_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0009450I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg
• abnormal olfactory bulb morphology_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0000819I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg
• abnormal frontonasal mesenchyme morphology_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0011266I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg
• decreased cell migration_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0011805I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg
• abnormal axon morphology_Sox10<tm1Weg>/Sox10<tm1Weg>
  http://metadb.riken.jp/0005404I129S1Sv129X1SvJSox10tm1WegSox10tm1WegSox10tm1Weg