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. 2016 Mar 2;24(9):1262–1267. doi: 10.1038/ejhg.2016.19

Figure 1.

Figure 1

Schematics of LAMA1 gene and LAMA1 protein with identified variants. Schematic structure of (a) LAMA1 gene and (b) LAMA1 protein. In the gene, vertical black bars denote the 63 exons. In the protein, SMART predicted domains are represented. Variants above and below the panels are those identified in this paper and by Aldinger et al, respectively. Splice site variants are not reported at the protein level. Horizontal gray bars denote multiexon deletions (a) or amino-acid deletions (b). The full colour version of this figure is available at European Journal of Human Genetics online.