Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_assertion description "[Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_assertion evidence source_evidence_curated NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_assertion SIO_000772 24568872 NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_assertion wasDerivedFrom uniprot-2016 NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_assertion wasGeneratedBy ECO_0000218 NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7809.RA4FOm5a1cA9kGxhp6Dq7xIqWTXWSNblT7seAJLMQDp3g130_provenance.