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http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/pages"543-544"xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/name"Hum. Mutat."xsd:string
http://purl.uniprot.org/citations/10571956http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/10571956
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/author"Vuillaumier-Barrot S."xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10571956http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10571956http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/10571956
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/author"Cuer M."xsd:string
http://purl.uniprot.org/citations/10571956http://purl.org/dc/terms/identifier"doi:10.1002/(sici)1098-1004(199912)14:6<543::aid-humu17>3.0.co;2-s"xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/author"Seta N."xsd:string
http://purl.uniprot.org/uniprot/#_O15305-citation-10571956http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/10571956
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/author"Barnier A."xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/title"Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping."xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/author"Durand G."xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/volume"14"xsd:string
http://purl.uniprot.org/citations/10571956http://purl.uniprot.org/core/author"Grandchamp B."xsd:string
http://purl.uniprot.org/uniprot/O15305#attribution-B795EDCDBB6DEA1C15B54008A5C66D29http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/10571956
http://purl.uniprot.org/uniprot/O15305http://purl.uniprot.org/core/citationhttp://purl.uniprot.org/citations/10571956