Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_assertion> ?p ?o ?g. }
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- NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_assertion type Assertion NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_head.
- NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_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." NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_provenance.
- NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_assertion evidence source_evidence_literature NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_provenance.
- NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_assertion SIO_000772 16704458 NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_provenance.
- NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_assertion wasDerivedFrom befree-2016 NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_provenance.
- NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_assertion wasGeneratedBy ECO_0000203 NP549974.RAA0eXiCE_R6stxF86DVUBcGFO7ZQG0heybTIojTQDOA0130_provenance.