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Exome sequencing was performed for the index proband in a CLIA-certified and CAP- and ISO 15189-accredited laboratory (Blueprint Genetics) as previously described.9 Segregation of the identified variant was performed by Sanger sequencing in the Clinical Genomics Laboratory at IWK Health.
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This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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