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
39669610 (PubMed )
Supplement: mmc1.xlsx › ARG1_pub_variants__Model_A__
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
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