Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.S184delFs
Back to variants list

ASL

NM_000048.4:p.S184delFs

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

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

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Trevisson E et al.

Human Mutation, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."