Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.R186W
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ASL

NM_000048.4:p.R186W

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

Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.

Leuger L et al.

Jimd Reports, 2021

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

Ali EZ et al.

Molecular Genetics and Metabolism Reports, 2019

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

Kim D et al.

Journal of Human Genetics, 2018

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

Balmer C et al.

Human Mutation, 2014

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

Imtiaz F et al.

Bmc Research Notes, 2010

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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."