Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion> ?p ?o ?g. }
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- NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion type Assertion NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_head.
- NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion description "[A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_provenance.
- NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion evidence source_evidence_literature NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_provenance.
- NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion SIO_000772 10053006 NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_provenance.
- NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion wasDerivedFrom befree-20150227 NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_provenance.
- NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_assertion wasGeneratedBy ECO_0000203 NP400773.RA-JJDFpFiOj8ZsetEZMuhQIQBU3gNPA4Mmahs8AAZ-qE130_provenance.