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Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders - European Journal of Human Genetics

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Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders - European Journal of Human Genetics

Numerous large scale genomic studies have uncovered rare but recurrent pathogenetic variants in a significant number of genes encoding epigenetic machinery in cases with neurodevelopmental disorders (NDD) especially autism spectrum disorder (ASD). These findings provide strong support for the functional importance of epigenetic regulators in neurodevelopment.

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Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders - European Journal of Human Genetics

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Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders - European Journal of Human Genetics

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