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. 2017 Dec 22;9(15):12513–12533. doi: 10.18632/oncotarget.23619

Figure 2. Schematic representations of human BSDL variants and associated pathologies.

Figure 2

The sequences of exons 1 to 10 encoding the N-terminal domain of BSDL are represented in purple. VNTR sequences are in blue; each box represents a single VNTR. The sequences of the VNTR that are modified upon mutation (i.e., insertion, deletion), or recombination are colored in orange (MODY-8 diabetes), red (chronic pancreatitis), or dark purple (PAC), along with the corresponding C-terminal sequence of the protein.