Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion> ?p ?o ?g. }
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- NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion type Assertion NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_head.
- NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion description "[A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_provenance.
- NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion evidence source_evidence_literature NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_provenance.
- NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion SIO_000772 23065719 NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_provenance.
- NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion wasDerivedFrom befree-20150227 NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_provenance.
- NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_assertion wasGeneratedBy ECO_0000203 NP811444.RA8QU1dgHbrvxF-u6pgMLJDaHkSzkPt9lDzO3GIsyRV3c130_provenance.