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Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations

14 Apr 2016

Abstract excerpt

BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the...

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PMID: 27465585
DOI: 10.1002/mgg3.217

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