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
39669610 (PubMed )
Supplement: mmc1.xlsx › ARG1_pub_variants__Model_A__
Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.
Yucel H et al.
Metabolic Brain Disease, 2018
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