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http://purl.uniprot.org/SHA-384/A5842B63D7B614934BD7211651B54AE0E132CBC6474FA7BC0A3EEDFE57E1D60CA78EA1A1EF6095193ED43A5F3CA17893http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A5842B63D7B614934BD7211651B54AE0E132CBC6474FA7BC0A3EEDFE57E1D60CA78EA1A1EF6095193ED43A5F3CA17893http://www.w3.org/2000/01/rdf-schema#comment"An autosomal recessive missense variant c.153C>A (p.F51L) in PEX26 was identified in Ashkenazi Jewish individual with a milder form of Zellweger spectrum and hearing loss. Binding of Pex26-F51L to Pex1 and Pex6 is severely impaired and affects peroxisome assembly. Pex26 in the patient's fibroblasts is reduced to approximately 30% of control suggesting that Pex26-F51L is unstable in cells. There are also other changes..."xsd:string
http://purl.uniprot.org/uniprot/#_8F1D083D6ED48B8F73C4A8BDAA9BC02EB00F1DAA1AEBFEAC050FE3B3352BACDA23C9C8463B36722CE874B4B87047EE75http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/A5842B63D7B614934BD7211651B54AE0E132CBC6474FA7BC0A3EEDFE57E1D60CA78EA1A1EF6095193ED43A5F3CA17893
http://purl.uniprot.org/uniprot/A0A0S2Z5M7http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/A5842B63D7B614934BD7211651B54AE0E132CBC6474FA7BC0A3EEDFE57E1D60CA78EA1A1EF6095193ED43A5F3CA17893
http://purl.uniprot.org/uniprot/#_A0A0S2Z5M7-mappedCitation-30446579http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/A5842B63D7B614934BD7211651B54AE0E132CBC6474FA7BC0A3EEDFE57E1D60CA78EA1A1EF6095193ED43A5F3CA17893