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DESCRIBE <http://purl.uniprot.org/SHA-384/0F17395C7C814CCBBBB9BDA3E89B2F2F768F4E6D3FCCE8A78F4DE6AFEE522E66C5444ADE0525BA76E5FD23969FC38018>
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http://purl.uniprot.org/SHA-384/0F17395C7C814CCBBBB9BDA3E89B2F2F768F4E6D3FCCE8A78F4DE6AFEE522E66C5444ADE0525BA76E5FD23969FC38018
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0F17395C7C814CCBBBB9BDA3E89B2F2F768F4E6D3FCCE8A78F4DE6AFEE522E66C5444ADE0525BA76E5FD23969FC38018
http://www.w3.org/2000/01/rdf-schema#comment
"The genetic analysis revealed a new missense mutation an A to G transition at nucleotide position 1026 in exon 6 leading to the substitution of glycine for glutamic acid at amino acid position 371(E371G)."
xsd:string
http://purl.uniprot.org/uniprot/#_46C7A7E9B444A3177CEBD957D4EA5DAAC68994191050CCFA46BF214517FF93AD44A08B72E183370D38A2960DE96CDB06
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0F17395C7C814CCBBBB9BDA3E89B2F2F768F4E6D3FCCE8A78F4DE6AFEE522E66C5444ADE0525BA76E5FD23969FC38018
http://purl.uniprot.org/uniprot/A0A224AME3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0F17395C7C814CCBBBB9BDA3E89B2F2F768F4E6D3FCCE8A78F4DE6AFEE522E66C5444ADE0525BA76E5FD23969FC38018
http://purl.uniprot.org/uniprot/#_A0A224AME3-mappedCitation-16168595
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0F17395C7C814CCBBBB9BDA3E89B2F2F768F4E6D3FCCE8A78F4DE6AFEE522E66C5444ADE0525BA76E5FD23969FC38018