Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.M1I
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ARG1

NM_000045.4:p.M1I

Associated Papers

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Freua F et al.

Cold Spring Harbor Molecular Case Studies, 2022

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1
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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."