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In Memory
Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman-like syndrome
Mar 2, 2025
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by
coffinsiris-foundation
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Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability
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OP23.09: Prenatal diagnosis of Coffin Siris syndrome
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