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. 2018 Feb;39(1):17–28.

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The contents of articles or advertisements in The Clinical Biochemist – Reviews are not to be construed as official statements, evaluations or endorsements by the AACB, its official bodies or its agents. Statements of opinion in AACB publications are those of the contributors. Print Post Approved - PP255003/01665. Copyright © 2005 The Australasian Association of Clinical Biochemists Inc. No literary matter in The Clinical Biochemist – Reviews is to be reproduced, stored in a retrieval system or transmitted in any form by electronic or mechanical means, photocopying or recording, without permission. Requests to do so should be addressed to the Editor. ISSN 0159 – 8090

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Pictorial examples of genetic results yielded by different sequencing methods. The same germline ARMC5 mutation (GRCh37/hg19, Chr16:g.31476121C>T; NM_001105247.1, c.1777C>T, p.Arg593Trp) is shown following Sanger sequencing (A) and next generation sequencing (B).