Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion> ?p ?o ?g. }
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- NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion type Assertion NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_head.
- NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion description "[Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_provenance.
- NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion evidence source_evidence_literature NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_provenance.
- NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion SIO_000772 14598341 NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_provenance.
- NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion wasDerivedFrom befree-20140225 NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_provenance.
- NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_assertion wasGeneratedBy ECO_0000203 NP191376.RA9WBA5tmrff_AjFHmZ5xaAdj7hC0CxLmqzzeD4FGVdAc130_provenance.