Teresa. Santiago-Sim, et.al., Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features., American journal of human genetics, 2017, 100

http://rdf.ncbi.nlm.nih.gov/pubmed/28343629

Teresa. Santiago-Sim, et.al., Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features., American journal of human genetics, 2017, 100

pubmed

表現型アノテーション

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

• decreased fetal size_Otud6b<tm1b(EUCOMM)Wtsi>/Otud6b<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0004200C57BL6NOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsi
• ventricular septal defect_Otud6b<tm1b(EUCOMM)Wtsi>/Otud6b<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0010402C57BL6NOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsi
• perinatal lethality, complete penetrance_Otud6b<tm1b(EUCOMM)Wtsi>/Otud6b<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0011089C57BL6NOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsi