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A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1 ‐associated neurodevelopmental disorder
Journal article   Peer reviewed

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, …
International journal of developmental neuroscience, Vol.83(2), pp.191-200
04/2023
PMID: 36527195

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