Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.L282fs
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ARG1

NM_000045.4:p.L282fs

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

Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.

Uchino T et al.

American Journal of Human Genetics, 1992

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."