Article

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

2026-08-04

Abstract excerpt

<h4>Background</h4> Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes that produce snRNAs are increasingly recognised as major contributors to rare disorders, including neurodevelopmental disorders (NDD) and retinal dystrophies (collectively termed ‘RNUopathies’, a subset of ‘sp...

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Literature Corpus work: 21bf99a0-dc2d-5568-b3e6-3951ddd28b7d
DOI: 10.64898/2026.08.03.26359558

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