Article

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

2023-09-29

Abstract excerpt

<title>Abstract</title> <p> Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H ( <italic>SMARCA5</italic> ) or SNF2L ( <italic>SMARCA1</italic> ) ISWI-chromatin remodeling enzyme. Pathogenic variants in <italic>BPTF</italic> and <italic>SMARCA5</italic> were previously impl...

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Literature Corpus work: 09288076-3b6f-5eb6-b540-f6b205373c33
DOI: 10.21203/rs.3.rs-3317938/v1

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