Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion> ?p ?o ?g. }
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- NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion type Assertion NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_head.
- NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion description "[Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_provenance.
- NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion evidence source_evidence_literature NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_provenance.
- NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion SIO_000772 17767372 NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_provenance.
- NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion wasDerivedFrom befree-20140225 NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_provenance.
- NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_assertion wasGeneratedBy ECO_0000203 NP370277.RAnnGfq-ECc38ImBZvJrcs5M4laP3VSe5Xln4UOJEGoYk130_provenance.