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- source_evidence_literature type ECO_0000212 NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_assertion wasGeneratedBy ECO_0000203 NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_assertion wasDerivedFrom befree-20150227 NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_assertion SIO_000772 19339306 NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_assertion evidence source_evidence_literature NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.
- NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_assertion description "[Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP674980.RAcNGN1d7w_xkgxM8XI2OlHDnle7L5nmbEQrEecvuOpAc130_provenance.