Ender. Karaca, et.al., Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function., Cell, 2014, 157

http://rdf.ncbi.nlm.nih.gov/pubmed/24766809

Ender. Karaca, et.al., Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function., Cell, 2014, 157

pubmed

表現型アノテーション

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

• decreased neuron number_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0008948B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• abnormal microglial cell morphology_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0000136CBACgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• decreased brain size_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0000774CBACgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• decreased brain weight_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0002175B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• decreased brain size_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0000774B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• microcephaly_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0000433CBACgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• decreased neuron number_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0008948CBACgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• thin cerebral cortex_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0006254B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• increased neuron apoptosis_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0003203B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• decreased brain weight_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0002175CBACgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• microcephaly_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0000433B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• abnormal olfactory bulb morphology_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0000819B6CgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr
• thin cerebral cortex_Clp1<tm1.1Pngr>/Clp1<tm1.1Pngr>
  http://metadb.riken.jp/0006254CBACgClp1tm11PngrClp1tm11PngrClp1tm11PngrClp1tm11Pngr