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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. 2

BRAT1 structure and variants examined in this study. A Schematic representation of BRAT1 mutations analysed in this study, spanning the entire gene. The variants include two frameshift mutations resulting in premature stop codons, seven missense mutations, and one missense variant that introduces a premature stop codon. Variants present in compound heterozygous individuals are color-coded accordingly. B Summary of BRAT1-mutated patients analysed in this study. Mutations are annotated at both the cDNA and protein levels, along with their homozygous or compound heterozygous status. Clinical severity of each case, ranging from mild to profound, is also provided

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