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http://purl.uniprot.org/SHA-384/6A232D87B8A83579A13064FB591588E9B4C6F69BD57321BDAB71F72F0ED376E6CCB2E5A2D64B46BFA60610AB1185B0E6http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6A232D87B8A83579A13064FB591588E9B4C6F69BD57321BDAB71F72F0ED376E6CCB2E5A2D64B46BFA60610AB1185B0E6http://www.w3.org/2000/01/rdf-schema#comment"further analysis revealed 2 hemizygous deletions in the grandmother that segregate in several of her affected offspring. The first deletion was found in the UGT2B28 locus spanning 7 informative sequence variants across at least 14 kb. The second deletion located in USP17L2 spans 3 informative variants across at least 2 kb. On the whole the findings of the presents study implicate 2 additional genes in the pathogenesis"xsd:string
http://purl.uniprot.org/uniprot/#_5BCB5CCAF698E30AB45197706CCB9486388C1126ADC453A94431FC2793A14D8FA291B36D99BEFADDBC77E18EC088150Ahttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/6A232D87B8A83579A13064FB591588E9B4C6F69BD57321BDAB71F72F0ED376E6CCB2E5A2D64B46BFA60610AB1185B0E6
http://purl.uniprot.org/uniprot/Q6R6M4http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6A232D87B8A83579A13064FB591588E9B4C6F69BD57321BDAB71F72F0ED376E6CCB2E5A2D64B46BFA60610AB1185B0E6
http://purl.uniprot.org/uniprot/#_Q6R6M4-mappedCitation-30628680http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6A232D87B8A83579A13064FB591588E9B4C6F69BD57321BDAB71F72F0ED376E6CCB2E5A2D64B46BFA60610AB1185B0E6