A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris Syndrome
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Pathogenic variants in BAF complex genes are linked to neurodevelopmental disorders, termed BAFopathies. Coffin-Siris syndrome (CSS) is the most well-defined BAFopathy caused by variants in several BAF subunit genes. ARID1A variants are responsible for 6-8% of... ...
