Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.I8T
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ARG1

NM_000045.4:p.I8T

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

The effect of liver transplantation for argininemia-the largest experiences in a single center.

Cui B et al.

Translational Pediatrics, 2022

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