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Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
Mar 2, 2025
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by
coffinsiris-foundation
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Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B
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De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
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