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- source_evidence_literature type ECO_0000212 NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_assertion wasGeneratedBy ECO_0000203 NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_assertion wasDerivedFrom gad-20130706 NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_assertion SIO_000772 15148151 NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_assertion evidence source_evidence_literature NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_assertion description "[ The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.
- gad-20130706 importedOn "2013-07-06" NP47922.RAeYeSl6UkfaGBUG-QGNDmW1GbujVeBULDiUsm1dqNlA4130_provenance.