Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22223473 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.