ventricular septal defect_Otud6b<tm1b(EUCOMM)Wtsi>/Otud6b<tm1b(EUCOMM)Wtsi>

http://metadb.riken.jp/0010402C57BL6NOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsiOtud6btm1bEUCOMMWtsi

ventricular septal defect_Otud6b<tm1b(EUCOMM)Wtsi>/Otud6b<tm1b(EUCOMM)Wtsi>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• OTU domain containing 6B
  http://metadb.riken.jp/db/mgi_rdf/MGI:1919451

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Otud6b<tm1b(EUCOMM)Wtsi>/Otud6b<tm1b(EUCOMM)Wtsi>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Otud6b<tm1b(EUCOMM)Wtsi>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• C57BL/6N-Otud6b<tm1b(EUCOMM)Wtsi>

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• ventricular septal defect
  http://purl.obolibrary.org/obo/MP_0010402

文献

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

• 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