Article

SNAPC4-related neurodevelopmental disorder defines a stage-dependent spliceosomopathy with heterogeneous clinical trajectories

2026-07-22

Abstract excerpt

<title>Abstract</title> Background The small nuclear RNA-activating complex polypeptide 4 (SNAPC4) encodes the largest scaffolding subunit of the SNAPc complex, essential for transcription of spliceosomal small nuclear RNAs (snRNAs) by RNA polymerase II and III. Although pathogenic variants in <italic>SNAPC4</italic> have been associated with a rare neurodevelopmental disorder, the full phenotypic spectru...

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Literature Corpus work: e05064b5-59f7-53d6-a754-035eec461176
DOI: 10.21203/rs.3.rs-10092554/v1

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