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. 2009 Dec 23;18(5):544–552. doi: 10.1038/ejhg.2009.220

Figure 2.

Figure 2

Schematic representation of the full-length CASK gene showing the different domains and both previously reported (in red) and new mutations (in black). The mutation nomenclature is based on the CASK full-length isoform encoding 926 amino acids (ENST00000378163). The four mutations in parentheses at the C-terminal end are associated with nystagmus.