Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_assertion> ?p ?o ?g. }
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- NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_assertion type Assertion NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_head.
- NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_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." NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_provenance.
- NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_assertion evidence source_evidence_literature NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_provenance.
- NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_assertion SIO_000772 17767372 NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_provenance.
- NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_assertion wasDerivedFrom befree-2016 NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_provenance.
- NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_assertion wasGeneratedBy ECO_0000203 NP627918.RAdBfOnLvjuHs5hSz2YLrIcD_fg6Bw-Dq8ah89sg8vprQ130_provenance.