TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
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author: Hülya Kayserili, Claudio R Cortés, Carol Wicking, Celine Huber, Miriam Schmidts, Peter J Scambler, Valérie Cormier-Daire, Lihadh Al-Gazali, Michael C O'Donovan, Alireza Moayyeri, Jeroen van Reeuwijk, Marius Ueffing
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