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- source_evidence_literature type ECO_0000212 NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_assertion description "[Three mutations (ORF15 + 483_484delGA, ORF15 + 652_653delAG, and ORF15 + 650_653delAGAG) in RPGR were identified in four families with XLRP, while two mutations (c.353G>A and c.103_1053del) in RP2 were detected in two families with retinitis pigmentosa (RP) and high myopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_assertion evidence source_evidence_literature NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_assertion SIO_000772 20021257 NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_assertion wasDerivedFrom befree-2016 NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_assertion wasGeneratedBy ECO_0000203 NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.
- befree-2016 importedOn "2016-02-19" NP782408.RAhwnplNx6M_XwYBHZO3RrHPbTBl-kEO1_dXhIEko5whI130_provenance.