Probable disease-associated mutation found in generalized non-inflammatory peeling skin syndrome type A; results in decreased enzyme activity; the mutant protein shows reduced glycosylation.
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| rdf:type | |
| rdfs:comment |
Probable disease-associated mutation found in generalized non-inflammatory peeling skin syndrome type A; results in decreased enzyme activity; the mutant protein shows reduced glycosylation.
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| rdfs:seeAlso | |
| uniprot:range | |
| uniprot:substitution |
W
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