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- source_evidence_literature type ECO_0000212 NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_assertion description "[This report describes the clinical course and visual prognosis in two families with cone dystrophy due to RPGR mutations in the 3' terminal region of ORF15.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_assertion evidence source_evidence_literature NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_assertion SIO_000772 21866333 NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_assertion wasDerivedFrom befree-2016 NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_assertion wasGeneratedBy ECO_0000203 NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP919174.RAbsTD8EUjz_guNP4oLam8tG9CV_AStivHcMxD11SQDnQ130_provenance.