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http://purl.uniprot.org/SHA-384/6374556A12C12CB71EC7CF00C57BBB4D088142EF28FC596C06AC8C6CA13E0A568F0637862466DFAE06CAC2029716BBD0http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6374556A12C12CB71EC7CF00C57BBB4D088142EF28FC596C06AC8C6CA13E0A568F0637862466DFAE06CAC2029716BBD0http://www.w3.org/2000/01/rdf-schema#comment"A family with clinical and laboratory characteristics of hereditary xerocytosis (HX) had an apparently conservative novel variant L2023V in PIEZO1. Functional analyses demonstrated a gain-of-function phenotype for the mutant PIEZO1 channel confirming the pathogenicity of the variant and its causative role for HX."xsd:string
http://purl.uniprot.org/uniprot/#_6D4888A59CA35CA29FC15469E885660BB8673D40030EE5496556071C33288699FF4499AB46FA5BBDB08B6CC94FF5A23Chttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/6374556A12C12CB71EC7CF00C57BBB4D088142EF28FC596C06AC8C6CA13E0A568F0637862466DFAE06CAC2029716BBD0
http://purl.uniprot.org/uniprot/Q92508http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6374556A12C12CB71EC7CF00C57BBB4D088142EF28FC596C06AC8C6CA13E0A568F0637862466DFAE06CAC2029716BBD0
http://purl.uniprot.org/uniprot/#_Q92508-mappedCitation-29210095http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6374556A12C12CB71EC7CF00C57BBB4D088142EF28FC596C06AC8C6CA13E0A568F0637862466DFAE06CAC2029716BBD0