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DESCRIBE <http://purl.uniprot.org/SHA-384/28F55A90149C0D2F67FD563F9F7A5546F60AE5E50847E7E95141148E859F00753B578FCA3C392EF190026D8E3A41A06F>
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http://purl.uniprot.org/SHA-384/28F55A90149C0D2F67FD563F9F7A5546F60AE5E50847E7E95141148E859F00753B578FCA3C392EF190026D8E3A41A06F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/28F55A90149C0D2F67FD563F9F7A5546F60AE5E50847E7E95141148E859F00753B578FCA3C392EF190026D8E3A41A06F
http://www.w3.org/2000/01/rdf-schema#comment
"study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene"
xsd:string
http://purl.uniprot.org/uniprot/#_91D92AE60B13F626DE97C3A23849AA5097A57AF6E9EA8DA7C2FFE4566B675AD24166126F98340716BE697A6AD035267B
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/28F55A90149C0D2F67FD563F9F7A5546F60AE5E50847E7E95141148E859F00753B578FCA3C392EF190026D8E3A41A06F
http://purl.uniprot.org/uniprot/B4E3N4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/28F55A90149C0D2F67FD563F9F7A5546F60AE5E50847E7E95141148E859F00753B578FCA3C392EF190026D8E3A41A06F
http://purl.uniprot.org/uniprot/#_B4E3N4-mappedCitation-26477479
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/28F55A90149C0D2F67FD563F9F7A5546F60AE5E50847E7E95141148E859F00753B578FCA3C392EF190026D8E3A41A06F