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DESCRIBE <http://purl.uniprot.org/SHA-384/F00FEB944BB47186D0AEFE6454F46C33A775AF0ED432DF8E5F5F67FDD1D1522B05D3A1052468CEDE5FF3C31E81B4845E>
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http://purl.uniprot.org/SHA-384/F00FEB944BB47186D0AEFE6454F46C33A775AF0ED432DF8E5F5F67FDD1D1522B05D3A1052468CEDE5FF3C31E81B4845E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F00FEB944BB47186D0AEFE6454F46C33A775AF0ED432DF8E5F5F67FDD1D1522B05D3A1052468CEDE5FF3C31E81B4845E
http://www.w3.org/2000/01/rdf-schema#comment
"Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing."
xsd:string
http://purl.uniprot.org/uniprot/#_667B749655750716850BDF5782BFBECB73B9F445C189AF14552EA220E2269A95F0C4340AB1350B84A3353EE0DDE7CBE7
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F00FEB944BB47186D0AEFE6454F46C33A775AF0ED432DF8E5F5F67FDD1D1522B05D3A1052468CEDE5FF3C31E81B4845E
http://purl.uniprot.org/uniprot/P35555
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F00FEB944BB47186D0AEFE6454F46C33A775AF0ED432DF8E5F5F67FDD1D1522B05D3A1052468CEDE5FF3C31E81B4845E
http://purl.uniprot.org/uniprot/#_P35555-mappedCitation-37000337
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F00FEB944BB47186D0AEFE6454F46C33A775AF0ED432DF8E5F5F67FDD1D1522B05D3A1052468CEDE5FF3C31E81B4845E