Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.K41fs
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ARG1

NM_000045.4:p.K41fs

Associated Papers

Arginase 1 deficiency: a treatable form of spastic paraplegia.

Burlina A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs∗2).

Nakajima H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

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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."