Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- befree-2016 importedOn "2016-02-19" NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_assertion wasGeneratedBy ECO_0000203 NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_assertion wasDerivedFrom befree-2016 NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_assertion SIO_000772 9633819 NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_assertion evidence source_evidence_literature NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.
- NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_assertion description "[A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1397739.RA9FsaaXB9jJ7aEpg3K6xJIKFN2KZgbSfk8KzGK4RqQpw130_provenance.