Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion description "[Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion evidence source_evidence_literature NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion SIO_000772 25817015 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion wasDerivedFrom befree-2016 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion wasGeneratedBy ECO_0000203 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.