Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.R113Q
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ASL

NM_000048.4:p.R113Q

Associated Papers

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ020

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

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

Balmer C et al.

Human Mutation, 2014

Requirement of argininosuccinate lyase for systemic nitric oxide production.

Erez A et al.

Nature Medicine, 2011

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

Trevisson E et al.

The Journal of Biological Chemistry, 2009

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

Trevisson E et al.

Human Mutation, 2007

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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."