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DESCRIBE <http://purl.uniprot.org/SHA-384/DA2FCE19137E56C4CAA6FF1075A25A0A57C1171E90E88E3B1540A6E8AB4081C6B621091B387254FBA18BBA405398F2F4>
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http://purl.uniprot.org/SHA-384/DA2FCE19137E56C4CAA6FF1075A25A0A57C1171E90E88E3B1540A6E8AB4081C6B621091B387254FBA18BBA405398F2F4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/DA2FCE19137E56C4CAA6FF1075A25A0A57C1171E90E88E3B1540A6E8AB4081C6B621091B387254FBA18BBA405398F2F4
http://www.w3.org/2000/01/rdf-schema#comment
"Results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM."
xsd:string
http://purl.uniprot.org/uniprot/#_35286E542111FE8D97DD860B94E182FFF365AAE27E83A4C674C476A9999093AA7D491280AA225F558533D29098828049
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/DA2FCE19137E56C4CAA6FF1075A25A0A57C1171E90E88E3B1540A6E8AB4081C6B621091B387254FBA18BBA405398F2F4
http://purl.uniprot.org/uniprot/Q14315
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DA2FCE19137E56C4CAA6FF1075A25A0A57C1171E90E88E3B1540A6E8AB4081C6B621091B387254FBA18BBA405398F2F4
http://purl.uniprot.org/uniprot/#_Q14315-mappedCitation-19050726
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DA2FCE19137E56C4CAA6FF1075A25A0A57C1171E90E88E3B1540A6E8AB4081C6B621091B387254FBA18BBA405398F2F4