Associated Papers
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C et al.
Journal of Neurology, 2015
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T et al.
American Journal of Human Genetics, 2011
Select a paper to view details