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- source_evidence_literature type ECO_0000212 NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_assertion description "[By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_assertion evidence source_evidence_literature NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_assertion SIO_000772 22560297 NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_assertion wasDerivedFrom befree-20140225 NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_assertion wasGeneratedBy ECO_0000203 NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.
- befree-20140225 importedOn "2014-02-25" NP928168.RAsMh-fTp4e16gd50k_N1H0FQJ04WcXBg6Y529v-xU7Ow130_provenance.