Functional identification of two novel variants and a hypomorphic variant in <i>ASS1</i> from patients with Citrullinemia type I.

Front Genet · 2023 · PMC10360398 · PMID 37485339

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highly significantno p-value reported

Both c.649_651del (p.P217del) and c.1048C>T (p.Q350*) showed a highly significant reduction in enzyme activity, while c.-4C>T had no effect.

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