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- source_evidence_literature type ECO_0000212 NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_assertion description "[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_assertion evidence source_evidence_literature NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_assertion SIO_000772 17569090 NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_assertion wasDerivedFrom befree-20150227 NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_assertion wasGeneratedBy ECO_0000203 NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP509992.RALIJbQj1MOa1MrCXa36nxRGIqbXt71UZ1hBk0xirHVvo130_provenance.