Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion> ?p ?o ?g. }
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- NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion type Assertion NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_head.
- NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion description "[Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb deformities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_provenance.
- NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion evidence source_evidence_literature NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_provenance.
- NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion SIO_000772 15221798 NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_provenance.
- NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion wasDerivedFrom befree-2016 NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_provenance.
- NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_assertion wasGeneratedBy ECO_0000203 NP450008.RAc1SBpWl4yAEhQTWkRG-X6y8HwDxoG0DE1R8K6PdDOV8130_provenance.