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DESCRIBE <http://purl.uniprot.org/SHA-384/C9F28F4C3512A62167A08B9BA5EFA011D69B53998593DEE9F408597A5B341FDAA612BFCE1D1316B02693819C55C30328>
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http://purl.uniprot.org/SHA-384/C9F28F4C3512A62167A08B9BA5EFA011D69B53998593DEE9F408597A5B341FDAA612BFCE1D1316B02693819C55C30328
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C9F28F4C3512A62167A08B9BA5EFA011D69B53998593DEE9F408597A5B341FDAA612BFCE1D1316B02693819C55C30328
http://www.w3.org/2000/01/rdf-schema#comment
"this is the first report of HLH in association with EVC syndrome and the IVS13+5G>A mutation that we believe is causative of EVC in our patient is also unreported."
xsd:string
http://purl.uniprot.org/uniprot/#_C0A2B3BBAB259A689C554B7E7FC755B5B2214469A7036A46B2939A83ACE6F37B992EA6ACD5D851DACCAEFF2FB682613B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C9F28F4C3512A62167A08B9BA5EFA011D69B53998593DEE9F408597A5B341FDAA612BFCE1D1316B02693819C55C30328
http://purl.uniprot.org/uniprot/Q70J99
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C9F28F4C3512A62167A08B9BA5EFA011D69B53998593DEE9F408597A5B341FDAA612BFCE1D1316B02693819C55C30328
http://purl.uniprot.org/uniprot/#_Q70J99-mappedCitation-23924873
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C9F28F4C3512A62167A08B9BA5EFA011D69B53998593DEE9F408597A5B341FDAA612BFCE1D1316B02693819C55C30328