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Publication: Valtorta et al., 2026 - Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
All Figures: Figures for Valtorta et al., 2026

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Fig. 1

INTS11 structure and variants examined in this study. A Schematic representation of INTS11 mutations analysed in this study, spanning the entire gene. The variants include two frameshift mutations leading to premature stop codons, ten missense mutations, and four splicing-affecting mutations. Variants present in compound heterozygous patients are color-coded accordingly. B Summary of INTS11-mutated patients analysed in this study. The summary includes the cDNA and protein-level annotations of each variant, along with their homozygous or compound heterozygous status. Clinical severity for each patient, categorized as moderate, severe, or profound, is also indicated

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