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. 2014 Apr 4;9(4):e93990. doi: 10.1371/journal.pone.0093990

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© 2014 Downs, Mellersh

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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Wildtype and FAM161A ^−/− sequence, with exon 5 (red), intron 4 (grey) and SINE insertion c.1758-15_1758-16ins238 (black) indicated. In the wildtype sequence, the putative BPS (blue, with the critical A underlined) is 76 bp upstream of the intron-exon boundary, while in the affected sequence it is >300 bp upstream of the boundary.