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Molecular diagnosis of thrombocytopenia‐absent radius syndrome using next‐generation sequencing
Authors:E. Nicchia  P. Giordano  C. Greco  D. De Rocco  A. Savoia
Affiliation:1. Department of Medical Sciences, University of Trieste, Trieste, Italy;2. University of Bari, Bari, Italy;3. Institute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy
Abstract:
Keywords:Thrombocytopenia‐absent radius (TAR) syndrome  next‐generation sequencing (NGS)  ion PGM sequencing  copy‐number variations (CNVs)  point mutation
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