Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion> ?p ?o ?g. }
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- NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion type Assertion NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_head.
- NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion description "[Non-syndromic oculocutaneous albinism (OCA) is a clinically and genetically heterogeneous autosomal recessive disorder with mutations identified in several genes: OCA1 (tyrosinase, TYR), OCA2 (OCA2), OCA3 (tyrosinase-related protein 1, TYRP1), and OCA4 (membrane-associated transporter protein, MATP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_provenance.
- NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion evidence source_evidence_literature NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_provenance.
- NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion SIO_000772 16704458 NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_provenance.
- NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion wasDerivedFrom befree-20140225 NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_provenance.
- NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_assertion wasGeneratedBy ECO_0000203 NP499326.RA2InCX88Ekq0kjjGtBg80ewapPMhJJos6TrwehO1X9-c130_provenance.