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http://purl.uniprot.org/SHA-384/13BF87BE6F9E15960E786FFA43787E9300F575EE24FD12754C78A9B94F4A7694F8350592DD7323157344D57C54D002F4http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/13BF87BE6F9E15960E786FFA43787E9300F575EE24FD12754C78A9B94F4A7694F8350592DD7323157344D57C54D002F4http://www.w3.org/2000/01/rdf-schema#comment"Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming muscular dystrophy-dystroglycanopathy type A (MDDGA3) one of a group of diseases collectively known as congenital muscular dystrophies is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities."xsd:string
http://purl.uniprot.org/uniprot/#_570F489AC2DC1D239B1BF989A6C6C1ED957737D7D3A8553E427C0B3B21386D8D1E77FD0F9FF4800FDB4863AF4D11B1D1http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/13BF87BE6F9E15960E786FFA43787E9300F575EE24FD12754C78A9B94F4A7694F8350592DD7323157344D57C54D002F4
http://purl.uniprot.org/uniprot/Q68CV6http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/13BF87BE6F9E15960E786FFA43787E9300F575EE24FD12754C78A9B94F4A7694F8350592DD7323157344D57C54D002F4
http://purl.uniprot.org/uniprot/#_Q68CV6-mappedCitation-29555514http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/13BF87BE6F9E15960E786FFA43787E9300F575EE24FD12754C78A9B94F4A7694F8350592DD7323157344D57C54D002F4