Regie Lyn P. Santos-Cortez, et.al., Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2., American journal of human genetics, 2016, 98

http://rdf.ncbi.nlm.nih.gov/pubmed/26805784

Regie Lyn P. Santos-Cortez, et.al., Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2., American journal of human genetics, 2016, 98

pubmed

表現型アノテーション

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

• cochlear outer hair cell degeneration_S1pr2<tm1Ajml>/S1pr2<tm1Ajml>
  http://metadb.riken.jp/0004404EI129S5SvEvBrdorI129S5SvEvBrdC57BL6S1pr2tm1AjmlS1pr2tm1AjmlS1pr2tm1Ajml
• thin stria vascularis_S1pr2<tm1Ajml>/S1pr2<tm1Ajml>
  http://metadb.riken.jp/0004364EI129S5SvEvBrdorI129S5SvEvBrdC57BL6S1pr2tm1AjmlS1pr2tm1AjmlS1pr2tm1Ajml
• deafness_S1pr2<tm1Ajml>/S1pr2<tm1Ajml>
  http://metadb.riken.jp/0001967EI129S5SvEvBrdorI129S5SvEvBrdC57BL6S1pr2tm1AjmlS1pr2tm1AjmlS1pr2tm1Ajml
• decreased otolith number_S1pr2<tm1Ajml>/S1pr2<tm1Ajml>
  http://metadb.riken.jp/0003144EI129S5SvEvBrdorI129S5SvEvBrdC57BL6S1pr2tm1AjmlS1pr2tm1AjmlS1pr2tm1Ajml