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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Academic Journal
Nasrinsadat Nabavizadeh; Annkatrin Bressin; Mohammad Shboul; Ricardo Moreno Traspas; Poh Hui Chia; Carine Bonnard; Emmanuelle Szenker‐Ravi; Burak Sarıbaş; Emmanuel Beillard; Umut Altunoglu; Zohreh Hojati; Scott Drutman; Susanne Freier; Mohammad El‐Khateeb; Rajaa Fathallah; Jean‐Laurent Casanova; Wesam Soror; Alaa Arafat; Nathalie Escande‐Beillard; Andreas Mayer; Bruno Reversade
EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
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[AR] Susanne Freier
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