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http://purl.uniprot.org/SHA-384/8DA39BF11733539D0749460AB010876943919AF4933FB0F8993D2D313616D56EF925B6F3764D2CCC6782C72FED390941http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8DA39BF11733539D0749460AB010876943919AF4933FB0F8993D2D313616D56EF925B6F3764D2CCC6782C72FED390941http://www.w3.org/2000/01/rdf-schema#comment"These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1 another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5 and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1"xsd:string
http://purl.uniprot.org/uniprot/#_F598C5C9D89FDFEDE33A5E513B534AC5605C1EC53F7FB7DA13DF4E32FE27C016E6BC72CB80CC1485564352C0C490E823http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/8DA39BF11733539D0749460AB010876943919AF4933FB0F8993D2D313616D56EF925B6F3764D2CCC6782C72FED390941
http://purl.uniprot.org/uniprot/Q8WVP7http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/8DA39BF11733539D0749460AB010876943919AF4933FB0F8993D2D313616D56EF925B6F3764D2CCC6782C72FED390941
http://purl.uniprot.org/uniprot/#_Q8WVP7-mappedCitation-26749485http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/8DA39BF11733539D0749460AB010876943919AF4933FB0F8993D2D313616D56EF925B6F3764D2CCC6782C72FED390941