Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion> ?p ?o ?g. }
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- NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion type Assertion NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_head.
- NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion description "[Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_provenance.
- NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion evidence source_evidence_literature NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_provenance.
- NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion SIO_000772 17183586 NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_provenance.
- NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion wasDerivedFrom befree-2016 NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_provenance.
- NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_assertion wasGeneratedBy ECO_0000203 NP585540.RAPGGwlMnlNH6fkxmHlTMcxLX7laO2amVSFVRK724_Mjc130_provenance.