Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion description "[The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion evidence source_evidence_literature NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion SIO_000772 25720167 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion wasDerivedFrom befree-2016 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion wasGeneratedBy ECO_0000203 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.