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DESCRIBE <http://purl.uniprot.org/SHA-384/4C29186FEE995EABF273C77ED8519610451303E3A42FDC77714D0B939334018DDBAE9C8F1259F7ABFA84E69F11A77D62>
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http://purl.uniprot.org/SHA-384/4C29186FEE995EABF273C77ED8519610451303E3A42FDC77714D0B939334018DDBAE9C8F1259F7ABFA84E69F11A77D62
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4C29186FEE995EABF273C77ED8519610451303E3A42FDC77714D0B939334018DDBAE9C8F1259F7ABFA84E69F11A77D62
http://www.w3.org/2000/01/rdf-schema#comment
"Frameshift and splice site variants were identified in two patients with the absence of collagen flowers on biopsy electron microscopy."
xsd:string
http://purl.uniprot.org/uniprot/#_51965726C1C821C6F25C87B13FFB839BC7C4D511B77295CD1C4AC1E100830018F732846DDFB273EDF267BC73A9577A82
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4C29186FEE995EABF273C77ED8519610451303E3A42FDC77714D0B939334018DDBAE9C8F1259F7ABFA84E69F11A77D62
http://purl.uniprot.org/uniprot/P20908
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4C29186FEE995EABF273C77ED8519610451303E3A42FDC77714D0B939334018DDBAE9C8F1259F7ABFA84E69F11A77D62
http://purl.uniprot.org/uniprot/#_P20908-mappedCitation-31569816
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4C29186FEE995EABF273C77ED8519610451303E3A42FDC77714D0B939334018DDBAE9C8F1259F7ABFA84E69F11A77D62