Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion> ?p ?o ?g. }
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- NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion type Assertion NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_head.
- NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion description "[Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_provenance.
- NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion evidence source_evidence_literature NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_provenance.
- NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion SIO_000772 25413698 NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_provenance.
- NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion wasDerivedFrom befree-2016 NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_provenance.
- NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_assertion wasGeneratedBy ECO_0000203 NP1238999.RABigq3Q_ldJIr7zdwj0c_h5h_1eIa7NH4ow241AZCF60130_provenance.