Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_assertion description "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_assertion evidence source_evidence_literature NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_assertion SIO_000772 19272779 NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_assertion wasDerivedFrom befree-2016 NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_assertion wasGeneratedBy ECO_0000203 NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP724773.RAD_tg3H-ZrCOzmDAnWirQYKqCK_Au4QvguitG27joHlQ130_provenance.