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- source_evidence_literature type ECO_0000212 NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_assertion description "[Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_assertion evidence source_evidence_literature NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_assertion SIO_000772 20493457 NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_assertion wasDerivedFrom befree-2016 NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_assertion wasGeneratedBy ECO_0000203 NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.
- befree-2016 importedOn "2016-02-19" NP813934.RAKq8c-3n9ih8chNwdmNTU96ToDJ3T0rBr5-lWhjUhc78130_provenance.