DESCRIBE <http://purl.uniprot.org/SHA-384/924C5CA20224B2DFCD9CDFE0507FCBC65C3951386CDDC4BAC68BF6F71CAE4B7C9371C4DD18C4EFD70CDECC001696691C>

Subject	Predicate	Object
http://purl.uniprot.org/SHA-384/924C5CA20224B2DFCD9CDFE0507FCBC65C3951386CDDC4BAC68BF6F71CAE4B7C9371C4DD18C4EFD70CDECC001696691C	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/924C5CA20224B2DFCD9CDFE0507FCBC65C3951386CDDC4BAC68BF6F71CAE4B7C9371C4DD18C4EFD70CDECC001696691C	http://www.w3.org/2000/01/rdf-schema#comment	"sequencing of IFT57 in 13 OFDS subjects and 12 subjects with Ellis-Van Creveld syndrome was negative. This report identifies the implication of IFT57 in human pathology and highlights the first description of a ciliary transport defect in OFDS extending the genetic heterogeneity of this subgroup of ciliopathies."xsd:string
http://purl.uniprot.org/uniprot/#_7892729E3C9FB11A87CF7B0819FDF1B51FA3A67B389023B742985AB2A51697813752184E4706C182DD31A3393D51D748	http://www.w3.org/1999/02/22-rdf-syntax-ns#subject	http://purl.uniprot.org/SHA-384/924C5CA20224B2DFCD9CDFE0507FCBC65C3951386CDDC4BAC68BF6F71CAE4B7C9371C4DD18C4EFD70CDECC001696691C
http://purl.uniprot.org/uniprot/B4DQL5	http://purl.uniprot.org/core/mappedAnnotation	http://purl.uniprot.org/SHA-384/924C5CA20224B2DFCD9CDFE0507FCBC65C3951386CDDC4BAC68BF6F71CAE4B7C9371C4DD18C4EFD70CDECC001696691C
http://purl.uniprot.org/uniprot/#_B4DQL5-mappedCitation-27060890	http://purl.uniprot.org/core/mappedAnnotation	http://purl.uniprot.org/SHA-384/924C5CA20224B2DFCD9CDFE0507FCBC65C3951386CDDC4BAC68BF6F71CAE4B7C9371C4DD18C4EFD70CDECC001696691C