Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.Y45N
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ASL

NM_000048.4:p.Y45N

Associated Papers

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Siri B et al.

Journal of Inherited Metabolic Disease, 2025

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández E et al.

Orphanet Journal of Rare Diseases, 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."