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DESCRIBE <http://purl.uniprot.org/SHA-384/5CA900C0C2F292B7CF8949FC617735058875DBA4618A11F5444D27242B43176C1D1723B166EEEB825CDE18C824016F91>
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http://purl.uniprot.org/SHA-384/5CA900C0C2F292B7CF8949FC617735058875DBA4618A11F5444D27242B43176C1D1723B166EEEB825CDE18C824016F91
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5CA900C0C2F292B7CF8949FC617735058875DBA4618A11F5444D27242B43176C1D1723B166EEEB825CDE18C824016F91
http://www.w3.org/2000/01/rdf-schema#comment
"A second known pedigree with LGMD1A: this finding constitutes a gold standard of proof that mutations in the myotilin gene cause Limb-Girdle Muscular Dystrophy 1A"
xsd:string
http://purl.uniprot.org/uniprot/#_59E20842F0E1DC88C57F0909DD8A1CAF895045E73817941B2D3409CF456C904E49250DE272CE531E3984F0331D89D484
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5CA900C0C2F292B7CF8949FC617735058875DBA4618A11F5444D27242B43176C1D1723B166EEEB825CDE18C824016F91
http://purl.uniprot.org/uniprot/B4DT68
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5CA900C0C2F292B7CF8949FC617735058875DBA4618A11F5444D27242B43176C1D1723B166EEEB825CDE18C824016F91
http://purl.uniprot.org/uniprot/#_B4DT68-mappedCitation-12428213
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5CA900C0C2F292B7CF8949FC617735058875DBA4618A11F5444D27242B43176C1D1723B166EEEB825CDE18C824016F91