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DESCRIBE <http://purl.uniprot.org/SHA-384/30B7F7BD893C380E32835DD1F442F2D6068C4E59FA47D5AD8EFC8513E3A67EF89F7AA5218319A5C406F26EECEEB4AA59>
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http://purl.uniprot.org/SHA-384/30B7F7BD893C380E32835DD1F442F2D6068C4E59FA47D5AD8EFC8513E3A67EF89F7AA5218319A5C406F26EECEEB4AA59
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/30B7F7BD893C380E32835DD1F442F2D6068C4E59FA47D5AD8EFC8513E3A67EF89F7AA5218319A5C406F26EECEEB4AA59
http://www.w3.org/2000/01/rdf-schema#comment
"we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients."
xsd:string
http://purl.uniprot.org/uniprot/#_26366418B682D385D802788DC55250CE73F8FFA9D9538E7ECC736BB3A6DE4CF727FB30712E702ADDE243D5712F6BE0BE
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/30B7F7BD893C380E32835DD1F442F2D6068C4E59FA47D5AD8EFC8513E3A67EF89F7AA5218319A5C406F26EECEEB4AA59
http://purl.uniprot.org/uniprot/B2CKC5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/30B7F7BD893C380E32835DD1F442F2D6068C4E59FA47D5AD8EFC8513E3A67EF89F7AA5218319A5C406F26EECEEB4AA59
http://purl.uniprot.org/uniprot/#_B2CKC5-mappedCitation-22727576
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/30B7F7BD893C380E32835DD1F442F2D6068C4E59FA47D5AD8EFC8513E3A67EF89F7AA5218319A5C406F26EECEEB4AA59