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DESCRIBE <http://purl.uniprot.org/SHA-384/01231A11DB8CD2A35DD2A4EE6754A2A0662D3A3B7BCF2D3D19854DD5203BDA831F85ED544FA3011BA17517459DD80E31>
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http://purl.uniprot.org/SHA-384/01231A11DB8CD2A35DD2A4EE6754A2A0662D3A3B7BCF2D3D19854DD5203BDA831F85ED544FA3011BA17517459DD80E31
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/01231A11DB8CD2A35DD2A4EE6754A2A0662D3A3B7BCF2D3D19854DD5203BDA831F85ED544FA3011BA17517459DD80E31
http://www.w3.org/2000/01/rdf-schema#comment
"single-nucleotide missense mutation in the ADAMTS1 gene (c. 742I>T) was found to segregate in the family given that the affected individuals must be heterozygous for the mutation"
xsd:string
http://purl.uniprot.org/uniprot/#_2DCA37DD9E120E1581C82A2D098B5EE75B64FE93343791224ECFB2556054AD3980D95020717900737C1ECF09C6DA0611
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/01231A11DB8CD2A35DD2A4EE6754A2A0662D3A3B7BCF2D3D19854DD5203BDA831F85ED544FA3011BA17517459DD80E31
http://purl.uniprot.org/uniprot/Q8NE26
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/01231A11DB8CD2A35DD2A4EE6754A2A0662D3A3B7BCF2D3D19854DD5203BDA831F85ED544FA3011BA17517459DD80E31
http://purl.uniprot.org/uniprot/#_Q8NE26-mappedCitation-26124221
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/01231A11DB8CD2A35DD2A4EE6754A2A0662D3A3B7BCF2D3D19854DD5203BDA831F85ED544FA3011BA17517459DD80E31