Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion> ?p ?o ?g. }
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- NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion type Assertion NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_head.
- NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion description "[The substantial reduction of SLC45A2 protein in the patient's melanocytes caused the mislocalization of tyrosinase from melanosomes to the plasma membrane and also led to the incorporation of tyrosinase into exosomes and secretion into the culture medium, explaining the hypopigmentation in OCA-4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_provenance.
- NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion evidence source_evidence_literature NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_provenance.
- NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion SIO_000772 21677667 NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_provenance.
- NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion wasDerivedFrom befree-2016 NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_provenance.
- NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_assertion wasGeneratedBy ECO_0000203 NP902441.RAaiF2BFTza5rm7L1tvnfnb97kLsfm4ab4vwOv58_aNT0130_provenance.