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- source_evidence_literature type ECO_0000212 NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_assertion description "[We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_assertion evidence source_evidence_literature NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_assertion SIO_000772 11889467 NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_assertion wasDerivedFrom befree-20150227 NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_assertion wasGeneratedBy ECO_0000203 NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978093.RAjio3S1D4_lHF5CV4Cul53G1IO_YAYRfGeoesfKqx4_0130_provenance.