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
Current status of surviving patients with arginase 1 deficiency in Japan.
Kido J et al.
Molecular Genetics and Metabolism Reports, 2021
Novel ARG1 variants identified in a patient with arginase 1 deficiency.
Yokoi K et al.
Human Genome Variation, 2021
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