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- source_evidence_literature type ECO_0000212 NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP231758.RAVR8yx9vbXgNnaVanHsXoYGdt8DJZ1Bjw6akG8A0a3A4130_provenance.