Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_assertion description "[Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_assertion evidence source_evidence_literature NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_assertion SIO_000772 22223473 NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_assertion wasDerivedFrom befree-20150227 NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_assertion wasGeneratedBy ECO_0000203 NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP626557.RADmBn5zSWIjzHZOo0ufIBTGIod9wpG1giLa9aSY9G0V4130_provenance.