Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_assertion> ?p ?o ?g. }
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- NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_assertion type Assertion NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_head.
- NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_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." NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_provenance.
- NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_assertion evidence source_evidence_literature NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_provenance.
- NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_assertion SIO_000772 19920235 NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_provenance.
- NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_assertion wasDerivedFrom befree-20140225 NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_provenance.
- NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_assertion wasGeneratedBy ECO_0000203 NP860690.RAUXBSEvRjWeMQJ8WPrCWyjqPJspoKoa8q7kMDkZMwKCk130_provenance.