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Cell-type-specific alternative splicing in the cerebral cortex and kidney of a <i> Setbp1 <sup>S858R</sup> </i> Schinzel-Giedion Syndrome patient variant mouse

2024-06-29

Abstract excerpt

Schinzel-Giedion Syndrome (SGS) is an ultra-rare Mendelian disorder caused by gain-of-function mutations in the SETBP1 gene. While previous studies determined multiple roles for how SETBP1 and associated pathways may cause disease manifestation, they have not assessed whether cell-type-specific alternative splicing (AS) plays a role in SGS. We quantified gene and splice junction (SJ) expression from snRNA-seq da...

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Literature Corpus work
af4deb96-3790-5ff4-80ed-9ab6165be69d
DOI
10.1101/2024.06.26.600823
Open publication

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Cell-type-specific alternative splicing in the cerebral cortex and kidney of a <i> Setbp1 <sup>S858R</sup> </i> Schinzel-Giedion Syndrome patient variant mouseDOI 10.1101/2024.06.26.600823
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