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http://purl.uniprot.org/annotation/VAR_031967http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_031967http://www.w3.org/2000/01/rdf-schema#comment"In CMTDIB and CNM1; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex; impairs PHD domain binding to vesicles composed of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate; does not affect GTP- and salt-induced disassembly; does not induce the formation of high-order oligomers; does not affect phosphorylation."xsd:string
http://purl.uniprot.org/annotation/VAR_031967http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/dbsnp/rs121909088
http://purl.uniprot.org/annotation/VAR_031967http://purl.uniprot.org/core/rangehttp://purl.uniprot.org/range/22576479304364078tt562tt562
http://purl.uniprot.org/annotation/VAR_031967http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/252
http://purl.uniprot.org/annotation/VAR_031967http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/264
http://purl.uniprot.org/annotation/VAR_031967http://purl.uniprot.org/core/substitution"E"xsd:string
http://purl.uniprot.org/uniprot/#_kb.P50570_up.annotation_a.VAR_031967http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/annotation/VAR_031967
http://purl.uniprot.org/uniprot/P50570http://purl.uniprot.org/core/annotationhttp://purl.uniprot.org/annotation/VAR_031967