Excited to share our paper with Ghayda Mirzaa describing the novel SMARCA1-related NDD. Out today in Nature Communications.
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Nature Communications - The authors identify pathogenic variants in the SMARCA1 gene as the cause of a variable neurodevelopmental disorder. Mouse studies suggest diverse genetic mechanisms related...
