Yichang. Jia, et.al., Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration., Cell, 2012, 148

http://rdf.ncbi.nlm.nih.gov/pubmed/22265417

Yichang. Jia, et.al., Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration., Cell, 2012, 148

pubmed

表現型アノテーション

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

• decreased cerebellar granule cell number_Rnu2-8<nmf291>/Rnu2-8<nmf291>
  http://metadb.riken.jp/0008924I129S4SvJaeC57BL6JRnu28nmf291Rnu28nmf291Rnu28nmf291
• neuron degeneration_Rnu2-8<nmf291>/Rnu2-8<+>
  http://metadb.riken.jp/0003224I129S4SvJaeC57BL6JRnu28nmf291Rnu28Rnu28nmf291Rnu28
• ataxia_Rnu2-8<nmf291>/Rnu2-8<nmf291>
  http://metadb.riken.jp/0001393I129S4SvJaeC57BL6JRnu28nmf291Rnu28nmf291Rnu28nmf291
• decreased cerebellar granule cell number_Rnu2-8<nmf291>/Rnu2-8<+>
  http://metadb.riken.jp/0008924I129S4SvJaeC57BL6JRnu28nmf291Rnu28Rnu28nmf291Rnu28
• neuron degeneration_Rnu2-8<nmf291>/Rnu2-8<nmf291>
  http://metadb.riken.jp/0003224I129S4SvJaeC57BL6JRnu28nmf291Rnu28nmf291Rnu28nmf291
• small cerebellum_Rnu2-8<nmf291>/Rnu2-8<+>
  http://metadb.riken.jp/0000852I129S4SvJaeC57BL6JRnu28nmf291Rnu28Rnu28nmf291Rnu28
• abnormal cerebellar granule cell morphology_Rnu2-8<nmf291>/Rnu2-8<nmf291>
  http://metadb.riken.jp/0004098I129S4SvJaeC57BL6JRnu28nmf291Rnu28nmf291Rnu28nmf291
• small cerebellum_Rnu2-8<nmf291>/Rnu2-8<nmf291>
  http://metadb.riken.jp/0000852I129S4SvJaeC57BL6JRnu28nmf291Rnu28nmf291Rnu28nmf291
• tremors_Rnu2-8<nmf291>/Rnu2-8<+>
  http://metadb.riken.jp/0000745I129S4SvJaeC57BL6JRnu28nmf291Rnu28Rnu28nmf291Rnu28