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 › gnomAD_v2.1.1_ARG1_2022
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
González-Atienza C et al.
Genes, 2023
New Insights into the Determinants of Specificity in Human Type I Arginase: Generation of a Mutant That Is Only Active with Agmatine as Substrate.
Orellana MS et al.
International Journal of Molecular Sciences, 2022
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