Ryan P. Liegel, et.al., Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans., American journal of human genetics, 2013, 93

http://rdf.ncbi.nlm.nih.gov/pubmed/24239381

Ryan P. Liegel, et.al., Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans., American journal of human genetics, 2013, 93

pubmed

表現型アノテーション

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

• decreased male germ cell number_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0004901129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• abnormal Golgi apparatus morphology_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0011743129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• cataract_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0001304129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• abnormal seminiferous tubule epithelium morphology_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0011750129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• abnormal cell morphology_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0000358129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• small lens_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0001306129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• small testis_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0001147129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• ruptured lens capsule_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0008841129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• abnormal lens fiber morphology_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0002840129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• abnormal lens morphology_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0001303129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs
• absent acrosome_Tbc1d20<bs>/Tbc1d20<bs>
  http://metadb.riken.jp/0008839129SAKRTbc1d20bsJTbc1d20bsTbc1d20bsTbc1d20bs