Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

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Published in:Cilia (London) 2012-11, Vol.1 (S1), p.P80-P80, Article P80
Main Authors: Arts, H, Schmidts, M, Bongers, EMHF, Oud, MM, Duijkers, LEM, Yap, Z, Stalker, J, Yntema, JL, Hoischen, A, Gilissen, C, Veltman, JA, Kutkowska-Kaźmierczak, A, Kamsteeg, EJ, Scambler, PJ, Beales, PL, Knoers, NVAM, Roepman, R, Mitchison, HM
Format: Article
Language:English
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Poster Presentation
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ISSN:2046-2530
2046-2530
DOI:10.1186/2046-2530-1-S1-P80