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DESCRIBE <http://purl.uniprot.org/SHA-384/312E22A5F5E3671E67935B3104FC0B562229587E5F51E342F27154E90A4F4E5817979757227F766019350B9E41BDC67C>
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http://purl.uniprot.org/SHA-384/312E22A5F5E3671E67935B3104FC0B562229587E5F51E342F27154E90A4F4E5817979757227F766019350B9E41BDC67C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/312E22A5F5E3671E67935B3104FC0B562229587E5F51E342F27154E90A4F4E5817979757227F766019350B9E41BDC67C
http://www.w3.org/2000/01/rdf-schema#comment
"A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 in patient of restrictive cardiomyopathy."
xsd:string
http://purl.uniprot.org/uniprot/#_1779A4F19554656366F87F1B01BD97E1CD1E062830B8FE3A4C394DC41C00F291A10462515E198A3E755D8493946811A2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/312E22A5F5E3671E67935B3104FC0B562229587E5F51E342F27154E90A4F4E5817979757227F766019350B9E41BDC67C
http://purl.uniprot.org/uniprot/Q5RLN1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/312E22A5F5E3671E67935B3104FC0B562229587E5F51E342F27154E90A4F4E5817979757227F766019350B9E41BDC67C
http://purl.uniprot.org/uniprot/#_Q5RLN1-mappedCitation-15759133
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/312E22A5F5E3671E67935B3104FC0B562229587E5F51E342F27154E90A4F4E5817979757227F766019350B9E41BDC67C