Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.R193W
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ASL

NM_000048.4:p.R193W

Associated Papers

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Zielonka M et al.

Human Mutation, 2020

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.

Ali EZ et al.

Molecular Genetics and Metabolism Reports, 2019

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

Hu L et al.

Journal of Inherited Metabolic Disease, 2015

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."