Table 1.
Pathogenic variants and variants of uncertain significance (VUS) identified in the CS patients.
Table 2.
Pathogenic and variants of uncertain significance (VUS) identified in unaffected relatives.
Table 3.
EnrichR analysis.
Fig 1.
Results of STRING analysis for 15 genes with VUS specific to CS patients.
Nodes (= query proteins) are represented by coloured circles; filled nodes indicate that the protein structure is known or predicted. Protein-protein interactions are represented by coloured lines as indicated in the key. These interactions indicated that proteins contribute to a shared function but does not necessarily mean they are physically binding each other (https://string-db.org/).