Associated Papers
Disease-Related Protein Variants of the Highly Conserved Enzyme PAPSS2 Show Marginal Stability and Aggregation in Cells.
Brylski O et al.
Frontiers in Molecular Biosciences, 2022
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
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A et al.
Human Mutation, 2013
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