Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion> ?p ?o ?g. }
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- NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion type Assertion NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_head.
- NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion description "[The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_provenance.
- NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion evidence source_evidence_literature NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_provenance.
- NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion SIO_000772 25631096 NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_provenance.
- NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion wasDerivedFrom befree-2016 NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_provenance.
- NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_assertion wasGeneratedBy ECO_0000203 NP1259183.RAHw5VZFSf4RnS1lsDNq3aal6W4jNsPvV0ZEsuY0Ic1P0130_provenance.