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- source_evidence_literature type ECO_0000212 NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_assertion wasGeneratedBy ECO_0000203 NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_assertion wasDerivedFrom befree-2016 NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_assertion SIO_000772 23714752 NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_assertion evidence source_evidence_literature NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.
- NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_assertion description "[Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1081297.RAo9Dy9jXLgnFwI84QH043zxvyoba-662Q77cpsGztjWk130_provenance.