Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Nasrinsadat Nabavizadeh,Annkatrin Bressin,Poh Hui Chia,Ricardo Moreno Traspas,Nathalie Escande-Beillard,Carine Bonnard,Zohreh Hojati,Scott Drutman,Susanne Freier,Mohammad El-Khateeb,Rajaa Fathallah, Jean-Laurent Casanova,Wesam Soror,Alaa Arafat,Mohammad Shboul,Andreas Mayer,Bruno Reversade

medRxiv (Cold Spring Harbor Laboratory)（2022）

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progeroid syndrome,deep intronic variants,mutation,rna/si-net

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