Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion> ?p ?o ?g. }
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- NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion type Assertion NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_head.
- NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion description "[Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_provenance.
- NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion evidence source_evidence_literature NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_provenance.
- NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion SIO_000772 23221805 NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_provenance.
- NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion wasDerivedFrom befree-20140225 NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_provenance.
- NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_assertion wasGeneratedBy ECO_0000203 NP172201.RASrN99BHii1ICYAq9COFVCvWEhkcxQyRFGuDCnU7b6qM130_provenance.