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- source_evidence_literature type ECO_0000212 NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_assertion description "[Three cases with deletion of the whole sodium channel gene cluster (SCN3A, SCN2A, SCN1A, SCN9A, and SCN7A) exhibited a complex epilepsy phenotype that was atypical for Dravet syndrome and suggestive of migrating partial seizures of infancy: early seizure onset (before 2 months of age), severe developmental delay from seizure onset, multifocal interictal spikes, polymorphous focal seizures, and acquired microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_assertion evidence source_evidence_literature NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_assertion SIO_000772 25524840 NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_assertion wasDerivedFrom befree-2016 NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_assertion wasGeneratedBy ECO_0000203 NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1249525.RA7DrX_NfW820FzgCoPD_d_aYzQEi5yl-lhMAuU__PCFo130_provenance.