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Fig. 7 | Orphanet Journal of Rare Diseases

Fig. 7

From: Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

Fig. 7

Association between age at onset and CLN6 predicted coding effect types. A Alleles in each variant class, stratified by disease diagnosis. Shown are the percentages of distinct alleles in homozygote cases. The total numbers are shown in the y-axis labels for each disease type; no variant was found in more than one. White: missense, grey: in-frame, black: loss of function (LoF) mutations. B Age at onset in 34 cases grouped by CLN6 variant type, plotted as in Figs. 2 and 4A. All patients in this dataset were homozygotes

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