Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_assertion> ?p ?o ?g. }
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- NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_assertion type Assertion NP776359.RAhm4SsNYjuINORC6dmF7maUupZSa3UUJJzsTsekNXsRY130_head.
- 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.