Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_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." NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_assertion evidence source_evidence_literature NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_assertion SIO_000772 22223473 NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_assertion wasDerivedFrom befree-2016 NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_assertion wasGeneratedBy ECO_0000203 NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.
- befree-2016 importedOn "2016-02-19" NP951245.RAk2NB8seCSNSrVcS0SQtYuSm0HaBKOJKDw8ge1-Uf7fI130_provenance.