http://purl.uniprot.org/annotation/VAR_068078 | http://www.w3.org/2000/01/rdf-schema#comment | "Found in a patient with congenital cataracts, hearing loss, neurodegeneration, neonatal hypotonia and hypoglycemia, pericardial effusion and neurodevelopmental regression after infection; the patient also carries a mutation in SLC33A1; mutant protein does not interact with SOD1."xsd:string |