Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.S16insFs
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ARG1

NM_000045.4:p.S16insFs

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: mmc2.xlsx › gnomAD_data
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