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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

2024-04-08

Abstract excerpt

<title>Abstract</title> <p><italic>ARID1B</italic> is the most frequently mutated gene in Coffin-Siris syndrome (CSS). To date, the vast majority of causative variants reported in <italic>ARID1B</italic> are truncating, leading to nonsense-mediated mRNA decay. In the absence of experimental data, only few <italic>ARID1B</italic> amino acid substitutions have been classified as pathogenic, mainly based on clinical...

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Literature Corpus work: f8620015-5b07-580d-9bbf-9a1bd00b80ad
DOI: 10.21203/rs.3.rs-4208262/v1

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