P770: Genetic characterization of PYCR1-associated De Barsy syndrome in a Pakistani family through whole exome trio sequencing

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Bibliographic Details
Main Authors: Azeem Butt, Aatika Aftab, Sughra Wahid, Shafiqa Siddique, Guanting Lu
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425011781
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