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- source_evidence_literature type ECO_0000212 NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_assertion description "[The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_assertion evidence source_evidence_literature NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_assertion SIO_000772 23857908 NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_assertion wasDerivedFrom befree-2016 NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_assertion wasGeneratedBy ECO_0000203 NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1094151.RA0HMfA9YU0We7uXe-aZsqXuI-u6uSuDXZkIP9yhd-mWU130_provenance.