FIGURE

Fig. 1

ID

ZDB-FIG-260709-50

Publication

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

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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

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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