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Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B
Mar 2, 2025
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by
coffinsiris-foundation
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The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
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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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