Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_assertion> ?p ?o ?g. }
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- NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_assertion type Assertion NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_head.
- NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_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." NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_provenance.
- NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_assertion evidence source_evidence_literature NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_provenance.
- NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_assertion SIO_000772 19920235 NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_provenance.
- NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_assertion wasDerivedFrom befree-20150227 NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_provenance.
- NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_assertion wasGeneratedBy ECO_0000203 NP977311.RABQfFrnAkfQCUaq3b2iiEN4Lpo6gVEMXbfDgi5-kBvug130_provenance.