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DESCRIBE <http://purl.uniprot.org/SHA-384/8DA2E2C7ADA26ED8BB894E3C66A747B7A1064E2E4DA85118C3C5A4BD45F4581485C0B191C95AC9F737A051C9CE98ECCA>
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http://purl.uniprot.org/SHA-384/8DA2E2C7ADA26ED8BB894E3C66A747B7A1064E2E4DA85118C3C5A4BD45F4581485C0B191C95AC9F737A051C9CE98ECCA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8DA2E2C7ADA26ED8BB894E3C66A747B7A1064E2E4DA85118C3C5A4BD45F4581485C0B191C95AC9F737A051C9CE98ECCA
http://www.w3.org/2000/01/rdf-schema#comment
"We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients suggesting a founder-effect"
xsd:string
http://purl.uniprot.org/uniprot/#_C8AE8E7727F7FA0B24BCF82345A3DF30F05C708C4C6DCB806B08362AE71827346D792E93DF73857F03A8213C4B384CC4
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8DA2E2C7ADA26ED8BB894E3C66A747B7A1064E2E4DA85118C3C5A4BD45F4581485C0B191C95AC9F737A051C9CE98ECCA
http://purl.uniprot.org/uniprot/P46019
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8DA2E2C7ADA26ED8BB894E3C66A747B7A1064E2E4DA85118C3C5A4BD45F4581485C0B191C95AC9F737A051C9CE98ECCA
http://purl.uniprot.org/uniprot/#_P46019-mappedCitation-21911307
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8DA2E2C7ADA26ED8BB894E3C66A747B7A1064E2E4DA85118C3C5A4BD45F4581485C0B191C95AC9F737A051C9CE98ECCA