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- source_evidence_literature type ECO_0000212 NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_assertion description "[The absence of detectable peripherin/RDS mutations in these families suggests either that: (i) mutations in other digenic partners are required for pathogenic ROM1 alleles to cause retinal degeneration; (ii) these ROM1 mutations do not cause RP; or (iii) peripherin/RDS mutations are present but were not identified in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_assertion evidence source_evidence_literature NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_assertion SIO_000772 8595413 NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_assertion wasDerivedFrom befree-20140225 NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_assertion wasGeneratedBy ECO_0000203 NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP821890.RAkpgXnP_Tjm7OJVYBc-bTlWoCiOxUPUia3zkY6KqIdo4130_provenance.