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Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

Crossref DOI link: https://doi.org/10.1038/s41431-018-0195-2

Published Online: 2018-06-11

Published Print: 2018-09

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Erger, Florian https://orcid.org/0000-0002-2768-1702
Burau, Karin

Elsässer, Michael

Zimmermann, Katharina

Moog, Ute

Netzer, Christian
License Information

Text and Data Mining valid from 2018-06-11
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Article History

Received: 21 February 2018

Revised: 10 April 2018

Accepted: 22 May 2018

First Online: 11 June 2018

Compliance with ethical standards

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: The authors declare that they have no conflict of interest.