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DESCRIBE <http://purl.uniprot.org/SHA-384/C49B1CB69C083BA21195A98739732255B0759F98CB133340B4083F15023A409690A708973C85362AADD3F00D31D8E57D>
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http://purl.uniprot.org/SHA-384/C49B1CB69C083BA21195A98739732255B0759F98CB133340B4083F15023A409690A708973C85362AADD3F00D31D8E57D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C49B1CB69C083BA21195A98739732255B0759F98CB133340B4083F15023A409690A708973C85362AADD3F00D31D8E57D
http://www.w3.org/2000/01/rdf-schema#comment
"A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree."
xsd:string
http://purl.uniprot.org/uniprot/#_13EF88A91608C4E7A4F49829E12F8CFBBB225AC970F51B4AD1ED16E0A1924B6BF79CA22FF325F1B3427A772C0D03C366
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C49B1CB69C083BA21195A98739732255B0759F98CB133340B4083F15023A409690A708973C85362AADD3F00D31D8E57D
http://purl.uniprot.org/uniprot/Q9NTN3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C49B1CB69C083BA21195A98739732255B0759F98CB133340B4083F15023A409690A708973C85362AADD3F00D31D8E57D
http://purl.uniprot.org/uniprot/#_Q9NTN3-mappedCitation-35934917
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C49B1CB69C083BA21195A98739732255B0759F98CB133340B4083F15023A409690A708973C85362AADD3F00D31D8E57D