Associated Papers
ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Cameron JM et al.
Genetics in Medicine Open, 2024
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.
Diez-Fernandez C et al.
Human Mutation, 2018
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2016
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