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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

11 May 2022

Abstract excerpt

The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this...

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PMID: 35543142
DOI: 10.1002/ajmg.a.62772

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