Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_assertion> ?p ?o ?g. }
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- NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_assertion type Assertion NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_head.
- NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_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." NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_provenance.
- NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_assertion evidence source_evidence_literature NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_provenance.
- NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_assertion SIO_000772 17767372 NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_provenance.
- NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_assertion wasDerivedFrom befree-20140225 NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_provenance.
- NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_assertion wasGeneratedBy ECO_0000203 NP706931.RAEvdb0zC394k7gYeCN8XeiVx0ecMj8hmiazurXAlIh9U130_provenance.