A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021)
Emrah Kaygusuz,Arwa Ishaq A. Khayyat,Uzma Abdullah,Birgit Susanne Budde,Maria Asif,Ilyas Ahmed,Ehtisham Ul Haq Makhdoom,Ilknur Sur-Erdem,Jamshaid Mahmood Baig,Muhammad Mohsin Ali Khan,Mohammad Reza Toliat, Christian Becker,Haseeb Anwar,Maria Iqbal,Sarah Fischer,Muhammad Jameel,Muhammad Sher,Muhammad Tariq,Naveed Altaf Malik,Angelika A. Noegel, Muhammad Jawad Hassan, Holger Thiele,Sigrid Tinschert,Ludwig Eichinger,Stefan Honing,Shahid Mahmood Baig,Peter Nurnberg,Muhammad Sajid Hussain CLINICAL GENETICS（2022）
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