Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1412576.RAMqOR72acnJ8MkM6kvxFEf1gNDcqhDN4Hm79SdrfmvWo#assertion> ?p ?o ?g. }
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- assertion description "[Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been described in individuals presenting mainly with caf? au lait macules (CALMs), axillary freckling, and macrocephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19920235 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.