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http://purl.uniprot.org/SHA-384/6E91E42DD7005F39CB0DFF76A6E853D905291BBF59E674F1DEECDCE6F9747AA811966B8E74880B798B640A88BCBF1856http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6E91E42DD7005F39CB0DFF76A6E853D905291BBF59E674F1DEECDCE6F9747AA811966B8E74880B798B640A88BCBF1856http://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/#_D60BC59169A96FBFB178DBCCF66BDCB3A4BC8D5852FE4C0DF07D677FDCE406418BE66F24CEAC815633CC7B8BF7CDD988http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/6E91E42DD7005F39CB0DFF76A6E853D905291BBF59E674F1DEECDCE6F9747AA811966B8E74880B798B640A88BCBF1856
http://purl.uniprot.org/uniprot/Q8NDP7http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6E91E42DD7005F39CB0DFF76A6E853D905291BBF59E674F1DEECDCE6F9747AA811966B8E74880B798B640A88BCBF1856
http://purl.uniprot.org/uniprot/#_Q8NDP7-mappedCitation-26749485http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6E91E42DD7005F39CB0DFF76A6E853D905291BBF59E674F1DEECDCE6F9747AA811966B8E74880B798B640A88BCBF1856