Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion type Assertion NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_head.
- NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion description "[Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion evidence source_evidence_literature NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion SIO_000772 14722913 NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion wasDerivedFrom befree-20150227 NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_assertion wasGeneratedBy ECO_0000203 NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.