Fig. 7From: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB geneEnterprise-X tool report comparing the pathogenicity of the two frameshift mutations in exon 19 of GNPTAB gene; the reported p.L1168QfsX5 mutation and the novel single base deletion p.T1163KfsX2 (http://cssb2.biology.gatech.edu/entprise-x/)Back to article page