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DESCRIBE <http://purl.uniprot.org/SHA-384/E0DFA491F63009D3FCF95499BABCF556E484700107119337E46674F58A094F76B89DE2FED884BA00188EDDEFAA087993>
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http://purl.uniprot.org/SHA-384/E0DFA491F63009D3FCF95499BABCF556E484700107119337E46674F58A094F76B89DE2FED884BA00188EDDEFAA087993
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E0DFA491F63009D3FCF95499BABCF556E484700107119337E46674F58A094F76B89DE2FED884BA00188EDDEFAA087993
http://www.w3.org/2000/01/rdf-schema#comment
"Two young sisters are compound heterozygous for mutations p.Leu32Arg and p.Arg141His while two paternal great-aunts are compound heterozygosity for p.Leu32Arg and p.Thr237Met with congenital disorder of glycosylation."
xsd:string
http://purl.uniprot.org/uniprot/#_09AF330D8F712A0609F3F12F13FEE5CFA1251916D6DC4D035A1551F88702DF7A4407BB8B1E16E04A783CB014AD2B0220
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E0DFA491F63009D3FCF95499BABCF556E484700107119337E46674F58A094F76B89DE2FED884BA00188EDDEFAA087993
http://purl.uniprot.org/uniprot/A0A291FGD1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E0DFA491F63009D3FCF95499BABCF556E484700107119337E46674F58A094F76B89DE2FED884BA00188EDDEFAA087993
http://purl.uniprot.org/uniprot/#_A0A291FGD1-mappedCitation-23988505
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E0DFA491F63009D3FCF95499BABCF556E484700107119337E46674F58A094F76B89DE2FED884BA00188EDDEFAA087993