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- source_evidence_literature type ECO_0000212 NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_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." NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_assertion evidence source_evidence_literature NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_assertion SIO_000772 20631154 NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_assertion wasDerivedFrom befree-20150227 NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_assertion wasGeneratedBy ECO_0000203 NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP924254.RASaZZc3lcNw_LSweNFMGelEmBnu0wUzAVjE72jshekC8130_provenance.