Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_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." NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_assertion evidence source_evidence_literature NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_assertion SIO_000772 19920235 NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_assertion wasDerivedFrom befree-2016 NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_assertion wasGeneratedBy ECO_0000203 NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.
- befree-2016 importedOn "2016-02-19" NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_provenance.