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DESCRIBE <http://purl.uniprot.org/SHA-384/E32D247E09BC615C778020B4B3BFFB21B0EC4557314523723861AF1964EFB96F2F5BC7D8D10147FC021436951D92A51F>
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http://purl.uniprot.org/SHA-384/E32D247E09BC615C778020B4B3BFFB21B0EC4557314523723861AF1964EFB96F2F5BC7D8D10147FC021436951D92A51F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E32D247E09BC615C778020B4B3BFFB21B0EC4557314523723861AF1964EFB96F2F5BC7D8D10147FC021436951D92A51F
http://www.w3.org/2000/01/rdf-schema#comment
"Our findings expand the male-specific phenotype of FLNA mutations that now includes classical-like EDS with lethal cardiac valvular dystrophy and offer further insights for the genotype-phenotype correlations within this spectrum."
xsd:string
http://purl.uniprot.org/uniprot/#_782B8C7F9506C1A5655710175CC030AA62A9061E2F0A5FF1F2123F03160E4794E7719D2A5FCC4B0A736FC81C13886C01
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E32D247E09BC615C778020B4B3BFFB21B0EC4557314523723861AF1964EFB96F2F5BC7D8D10147FC021436951D92A51F
http://purl.uniprot.org/uniprot/Q2VP91
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E32D247E09BC615C778020B4B3BFFB21B0EC4557314523723861AF1964EFB96F2F5BC7D8D10147FC021436951D92A51F
http://purl.uniprot.org/uniprot/#_Q2VP91-mappedCitation-27739212
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E32D247E09BC615C778020B4B3BFFB21B0EC4557314523723861AF1964EFB96F2F5BC7D8D10147FC021436951D92A51F