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Functional Profiling of 2,193 <i>ASS1</i> Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

2025-09-20

Abstract excerpt

Sequence variants in the urea cycle gene argininosuccinate synthase ( ASS1 ) cause Citrullinemia type 1 (CTLN1), a rare autosomal recessive disease. Mechanistically, reduction in argininosuccinate synthetase (ASS) enzyme activity impairs the urea cycle, leading to an accumulation of citrulline and neurotoxic ammonia. Disease severity varies according to the degree of enzyme impairment, ranging from severe neonata...

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Literature Corpus work
04a2e33e-2da9-5124-88a6-797143021350
DOI
10.1101/2025.09.17.676623
Open publication

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