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- source_evidence_literature type ECO_0000212 NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_assertion description "[Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_assertion evidence source_evidence_literature NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_assertion SIO_000772 16384941 NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_assertion wasDerivedFrom befree-2016 NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_assertion wasGeneratedBy ECO_0000203 NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.
- befree-2016 importedOn "2016-02-19" NP528886.RAGFuShptAhhxmZ0m452wjJ0BRWGbX0k6mgBUdvwY40FI130_provenance.