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Subject non‐coding variant -- Osteogenesis Imperfecta -- RNA‐seq -- SI‐NET‐seq -- TAPT1

1. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing. Issue 2 (18th January 2023)

Authors:
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...
Journal:
EMBO molecular medicine
Issue:
Volume 15:Issue 2(2023)
Page Start:
n/a
Record Type:
Journal Article
View Content:
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