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DESCRIBE <http://purl.uniprot.org/SHA-384/8AE26FEAABCCC27CC1725FD3D4FA9D89016D98CE0146867F7CAB1D168B30181B0240F67ADFF96C1C7124BCBD387BD906>
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http://purl.uniprot.org/SHA-384/8AE26FEAABCCC27CC1725FD3D4FA9D89016D98CE0146867F7CAB1D168B30181B0240F67ADFF96C1C7124BCBD387BD906
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8AE26FEAABCCC27CC1725FD3D4FA9D89016D98CE0146867F7CAB1D168B30181B0240F67ADFF96C1C7124BCBD387BD906
http://www.w3.org/2000/01/rdf-schema#comment
"Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes."
xsd:string
http://purl.uniprot.org/uniprot/#_5257BD2E2E4053AF2A9DD0C53619D585CEB5AF44151D1040144097CC138EEF9C184FB331036EED95F9AED8852D0C0B0D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8AE26FEAABCCC27CC1725FD3D4FA9D89016D98CE0146867F7CAB1D168B30181B0240F67ADFF96C1C7124BCBD387BD906
http://purl.uniprot.org/uniprot/Q86UU1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8AE26FEAABCCC27CC1725FD3D4FA9D89016D98CE0146867F7CAB1D168B30181B0240F67ADFF96C1C7124BCBD387BD906
http://purl.uniprot.org/uniprot/#_Q86UU1-mappedCitation-36543534
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8AE26FEAABCCC27CC1725FD3D4FA9D89016D98CE0146867F7CAB1D168B30181B0240F67ADFF96C1C7124BCBD387BD906