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DESCRIBE <http://purl.uniprot.org/SHA-384/BE17183F0CDD9690DAB10D31B091190AB8DCAA6E479BE6707B53EECA2B5DCC933023BDBA904D32798A2D20BA21680C55>
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http://purl.uniprot.org/SHA-384/BE17183F0CDD9690DAB10D31B091190AB8DCAA6E479BE6707B53EECA2B5DCC933023BDBA904D32798A2D20BA21680C55
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BE17183F0CDD9690DAB10D31B091190AB8DCAA6E479BE6707B53EECA2B5DCC933023BDBA904D32798A2D20BA21680C55
http://www.w3.org/2000/01/rdf-schema#comment
"5 new mutations were found in the MAN2B1 gene: c.157G>T c.562C>T c.599A>T c.293dupA c.2402G>A (p.E53X p.R188X p.H200L p.Y99VfsX61 p.G801D). p.H200L could involve the catalytic mechanism. p.G801D would affect correct folding."
xsd:string
http://purl.uniprot.org/uniprot/#_645AB9C79F3DA7C7CBC03035D22AF096BBEA70B1C012BC3A5B7A98928611BCB068364F93F6BC55A753E249BB1D8E6B5B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BE17183F0CDD9690DAB10D31B091190AB8DCAA6E479BE6707B53EECA2B5DCC933023BDBA904D32798A2D20BA21680C55
http://purl.uniprot.org/uniprot/B4E0K9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BE17183F0CDD9690DAB10D31B091190AB8DCAA6E479BE6707B53EECA2B5DCC933023BDBA904D32798A2D20BA21680C55
http://purl.uniprot.org/uniprot/#_B4E0K9-mappedCitation-15712269
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BE17183F0CDD9690DAB10D31B091190AB8DCAA6E479BE6707B53EECA2B5DCC933023BDBA904D32798A2D20BA21680C55