Anna A W M. Sanders, et.al., KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome., Genome biology, 2015, 16

http://rdf.ncbi.nlm.nih.gov/pubmed/26714646

Anna A W M. Sanders, et.al., KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome., Genome biology, 2015, 16

pubmed

表現型アノテーション

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

• obstructive hydrocephaly_D430042O09Rik<Gt(RRG309)Byg>/D430042O09Rik<Gt(RRG309)Byg>
  http://metadb.riken.jp/0000917I129P2OlaHsdC57BL6D430042O09RikGtRRG309BygD430042O09RikGtRRG309BygD430042O09RikGtRRG309Byg
• enlarged lateral ventricles_D430042O09Rik<Gt(RRG309)Byg>/D430042O09Rik<Gt(RRG309)Byg>
  http://metadb.riken.jp/0008535I129P2OlaHsdC57BL6D430042O09RikGtRRG309BygD430042O09RikGtRRG309BygD430042O09RikGtRRG309Byg
• cerebral aqueductal stenosis_D430042O09Rik<Gt(RRG309)Byg>/D430042O09Rik<Gt(RRG309)Byg>
  http://metadb.riken.jp/0002958I129P2OlaHsdC57BL6D430042O09RikGtRRG309BygD430042O09RikGtRRG309BygD430042O09RikGtRRG309Byg
• abnormal hippocampus morphology_D430042O09Rik<Gt(RRG309)Byg>/D430042O09Rik<Gt(RRG309)Byg>
  http://metadb.riken.jp/0000807I129P2OlaHsdC57BL6D430042O09RikGtRRG309BygD430042O09RikGtRRG309BygD430042O09RikGtRRG309Byg
• abnormal cerebrospinal fluid flow_D430042O09Rik<Gt(RRG309)Byg>/D430042O09Rik<Gt(RRG309)Byg>
  http://metadb.riken.jp/0013907I129P2OlaHsdC57BL6D430042O09RikGtRRG309BygD430042O09RikGtRRG309BygD430042O09RikGtRRG309Byg
• hydroencephaly_D430042O09Rik<Gt(RRG309)Byg>/D430042O09Rik<Gt(RRG309)Byg>
  http://metadb.riken.jp/0001891I129P2OlaHsdC57BL6D430042O09RikGtRRG309BygD430042O09RikGtRRG309BygD430042O09RikGtRRG309Byg