Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
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| Description | scientific article published on 31 July 2017 |
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author: Martin Zenker Nima Rezaei Eva Schäflein Maja Sukalo Alexander Kleger Jesús Argente |
| Publication date | July 31, 2017 |
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