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- source_evidence_literature type ECO_0000212 NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_assertion description "[The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_assertion evidence source_evidence_literature NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_assertion SIO_000772 20631154 NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_assertion wasDerivedFrom befree-2016 NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_assertion wasGeneratedBy ECO_0000203 NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.
- befree-2016 importedOn "2016-02-19" NP826148.RA-gxooElg8fiYPsNhOPCQa0Ajg9yuxCH5BqZV0EAalnw130_provenance.