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Dive into the research topics of 'THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder'. Together they form a unique fingerprint.- Sort by
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Martin Broly, Bogdan V. Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S. Alkuraya, Alberta Leon, Rosa L.E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini
Research output: Contribution to journal › Article › peer-review