Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.R32fs
Back to variants list

ARG1

NM_000045.4:p.R32fs

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

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.

Balestrini S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."