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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing von Nabavizadeh, Nasrinsadat, Bressin, Annkatrin, Shboul, Mohammad, Moreno Traspas, Ricardo, Chia, Poh Hui, Bonnard, Carine, Szenker‐Ravi, Emmanuelle, Sarıbaş, Burak, Beillard, Emmanuel, Altunoglu, Umut, Hojati, Zohreh, Drutman, Scott, Freier, Susanne, El‐Khateeb, Mohammad, Fathallah, Rajaa, Casanova, Jean‐Laurent, Soror, Wesam, Arafat, Alaa, Escande‐Beillard, Nathalie, Mayer, Andreas, Reversade, Bruno
Veröffentlicht in EMBO molecular medicine
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