Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_assertion description "[A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_assertion evidence source_evidence_curated NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_assertion SIO_000772 23881059 NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_assertion wasDerivedFrom uniprot-2016 NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_assertion wasGeneratedBy ECO_0000218 NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7594.RAxa6MNDv_6uvQ-VKYTfKXuKLGEa4Eebm7dCa8dJD5RNM130_provenance.