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http://purl.uniprot.org/SHA-384/83D91875B332B0CDEA48100B6B425C176A2DDADABB251B3E38120680BB9F4FAC97BA7C652D10ADAB58D2D50469F3C1A6http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/83D91875B332B0CDEA48100B6B425C176A2DDADABB251B3E38120680BB9F4FAC97BA7C652D10ADAB58D2D50469F3C1A6http://www.w3.org/2000/01/rdf-schema#comment"Baraitser-Winter cerebrofrontofacial syndrome is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients) diagnosis management mutation spectrum and genetic counselling."xsd:string
http://purl.uniprot.org/uniprot/#_D72FDCA9756F41895470B1292B953B1DFDFFD8318DE015FBDF915FA03412CB0F763E3E00497922D7A53DC7A53E0BF855http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/83D91875B332B0CDEA48100B6B425C176A2DDADABB251B3E38120680BB9F4FAC97BA7C652D10ADAB58D2D50469F3C1A6
http://purl.uniprot.org/uniprot/Q8WVW5http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/83D91875B332B0CDEA48100B6B425C176A2DDADABB251B3E38120680BB9F4FAC97BA7C652D10ADAB58D2D50469F3C1A6
http://purl.uniprot.org/uniprot/#_Q8WVW5-mappedCitation-27625340http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/83D91875B332B0CDEA48100B6B425C176A2DDADABB251B3E38120680BB9F4FAC97BA7C652D10ADAB58D2D50469F3C1A6