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DESCRIBE <http://purl.uniprot.org/SHA-384/04AA5CADD5B77A67C6EC8C137B2418B64E8452117BC81F6E0B6D989DEE5CD4B02640938E9FD9510CC9E20D4FD89B1ACD>
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http://purl.uniprot.org/SHA-384/04AA5CADD5B77A67C6EC8C137B2418B64E8452117BC81F6E0B6D989DEE5CD4B02640938E9FD9510CC9E20D4FD89B1ACD
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/04AA5CADD5B77A67C6EC8C137B2418B64E8452117BC81F6E0B6D989DEE5CD4B02640938E9FD9510CC9E20D4FD89B1ACD
http://www.w3.org/2000/01/rdf-schema#comment
"report of a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia focal epilepsy relative macrocephaly and diminished deep-tendon reflexes"
xsd:string
http://purl.uniprot.org/uniprot/#_7469F0FCEF70D6BAA1D8F1DFEC8C66DFDA608161706D1B691D85FF490AD255B05EE7D7B7328CB9C3D35AB147E275BBCD
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/04AA5CADD5B77A67C6EC8C137B2418B64E8452117BC81F6E0B6D989DEE5CD4B02640938E9FD9510CC9E20D4FD89B1ACD
http://purl.uniprot.org/uniprot/B2RCH4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/04AA5CADD5B77A67C6EC8C137B2418B64E8452117BC81F6E0B6D989DEE5CD4B02640938E9FD9510CC9E20D4FD89B1ACD
http://purl.uniprot.org/uniprot/#_B2RCH4-mappedCitation-16571880
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/04AA5CADD5B77A67C6EC8C137B2418B64E8452117BC81F6E0B6D989DEE5CD4B02640938E9FD9510CC9E20D4FD89B1ACD