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DESCRIBE <http://purl.uniprot.org/SHA-384/EFF42489E27342CA7ED1DDC568B2BC1A441BBAE31FC6391934F1AD83B9DC7D83045E5860891361510DD92D39071A803F>
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http://purl.uniprot.org/SHA-384/EFF42489E27342CA7ED1DDC568B2BC1A441BBAE31FC6391934F1AD83B9DC7D83045E5860891361510DD92D39071A803F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/EFF42489E27342CA7ED1DDC568B2BC1A441BBAE31FC6391934F1AD83B9DC7D83045E5860891361510DD92D39071A803F
http://www.w3.org/2000/01/rdf-schema#comment
"The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry."
xsd:string
http://purl.uniprot.org/uniprot/#_B15C80D2ACAA5CC14BD10188CCD96C3EAC8F136E219AB26ABF33CE573C7A5536712BB9F5FE493AAEEE27A981F9ECD589
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/EFF42489E27342CA7ED1DDC568B2BC1A441BBAE31FC6391934F1AD83B9DC7D83045E5860891361510DD92D39071A803F
http://purl.uniprot.org/uniprot/P43489
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EFF42489E27342CA7ED1DDC568B2BC1A441BBAE31FC6391934F1AD83B9DC7D83045E5860891361510DD92D39071A803F
http://purl.uniprot.org/uniprot/#_P43489-mappedCitation-35019224
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/EFF42489E27342CA7ED1DDC568B2BC1A441BBAE31FC6391934F1AD83B9DC7D83045E5860891361510DD92D39071A803F