Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion> ?p ?o ?g. }
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- NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion type Assertion NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_head.
- NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion description "[Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_provenance.
- NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion evidence source_evidence_literature NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_provenance.
- NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion SIO_000772 10377013 NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_provenance.
- NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion wasDerivedFrom befree-2016 NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_provenance.
- NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_assertion wasGeneratedBy ECO_0000203 NP255601.RAr6O6A2BDv8zxmidWSgANF7975MnUIjhOlqzXWzbOSy4130_provenance.