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After the introduction of NGS technology, many variants have been described for each PFIC-related gene, and new ones are frequently identified

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Fact: Eye color is deeply embedded in the stroma of the iris

It inhibits NOTCH1 signaling by using its GCT activity to cleave a -glutamyl-cysteine bond at glutamate 1669 of the immature NOTCH receptor, thereby preventing the essential S1 cleavage and subsequent activation ( FIGURE 6 The physiological importance of this mechanism is underscored by severe developmental phenotypes upon its disruption

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