Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_assertion description "[We report a novel missense mutation, p.V42M, in CRYGS associated with bilateral congenital cataract in a family of Indian origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_assertion evidence source_evidence_literature NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_assertion SIO_000772 19262743 NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_assertion wasDerivedFrom befree-20140225 NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_assertion wasGeneratedBy ECO_0000203 NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP331818.RAMWB74_6_x82oIgleACi34mn3I2PWE40IpBK2mUY_dEY130_provenance.