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Transcriptional and functional consequences of alterations to <i>MEF2C</i> and its topological organization in neuronal models

2022-02-15

Abstract excerpt

<h4>ABSTRACT</h4> Point mutations and structural variants directly disrupting the coding sequence of MEF2C have been associated with a spectrum of neurodevelopmental disorders (NDDs), while recent studies have also implicated altered noncoding regulation of MEF2C expression in NDDs. However, the impact of haploinsufficiency of MEF2C on neurodevelopmental pathways and synaptic processes is not well understood,...

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Literature Corpus work
5ecbfa94-77a3-5277-beae-a8d345c88658
DOI
10.1101/2022.02.15.480098
Open publication

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Transcriptional and functional consequences of alterations to <i>MEF2C</i> and its topological organization in neuronal modelsDOI 10.1101/2022.02.15.480098
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