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- source_evidence_literature type ECO_0000212 NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_assertion description "[ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and likely increase the risk of developing age-related macular degeneration (AMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_assertion evidence source_evidence_literature NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_assertion SIO_000772 12789571 NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_assertion wasDerivedFrom befree-2016 NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_assertion wasGeneratedBy ECO_0000203 NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.
- befree-2016 importedOn "2016-02-19" NP397082.RAytPQyfoEryXVa9SPMREb2s472x3UdcENFX-V0UkAeds130_provenance.