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A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1 ‐associated neurodevelopmental disorder

Ahmed Waqas, Romana Liaqat, Sidrah Shaheen, Ali Zaman Khan, Mujahid, Alaa Hamed Habib, Najat Binothman, Majidah Aljadani, Zamrud Zehri, Shabnam Shaheen,
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Published: 30 December 2022
 by  Wiley

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