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- source_evidence_literature type ECO_0000212 NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_assertion description "[These data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of TS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_assertion evidence source_evidence_literature NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_assertion SIO_000772 15863612 NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_assertion wasDerivedFrom befree-2016 NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_assertion wasGeneratedBy ECO_0000203 NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.
- befree-2016 importedOn "2016-02-19" NP492369.RAVQqYR1mAbqzDHEA1XHtE3f1mBFRO_Q5S29SKl3lPi5k130_provenance.