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Figure 7
JAG1 heterozygous mutations in CHH probands.
(A) Schematic illustration of JAG1 mutations in nCHH and KS probands. The signal peptide (SP), the Delta:Serrate:LAG-2 (DSL) domain, the EGF-like repeats, the cysteine-rich region (CR), and the transmembrane domain (TM) are represented. The relative position of the variants is indicated on the illustration. (B) Alignment of partial protein sequences of JAG1 orthologs showing in blue the amino acid residues evolutionarily conserved.
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