Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.A104V
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ASL

NM_000048.4:p.A104V

Associated Papers

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Zhang K et al.

Orphanet Journal of Rare Diseases, 2025

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Hu L et al.

Journal of Inherited Metabolic Disease, 2015

25778938 (PubMed )
Supplement: supplement_1.doc

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Balmer C et al.

Human Mutation, 2014

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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."