Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
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
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
Arginase deficiency with new phenotype and a novel mutation: contemporary summary.
Tsang JP et al.
Pediatric Neurology, 2012
Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency.
Koo M et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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