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. 2014 Dec 14;15:134. doi: 10.1186/s12881-014-0134-1

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© McLaughlin et al.; licensee BioMed Central. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Variant classifications from 20 genomes (a). A total of 381 unique variants were assessed and classified after filtration (b) HGMD classification comparison. Disease causing mutation (DM), likely disease causing mutation (DM?), loss-of-function (LOF).