Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.A57T
Back to variants list

ASPA

NM_000049.4:p.A57T

Associated Papers

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI et al.

Human Mutation, 2017

Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.

Sreevishnupriya K et al.

Science China. Life Sciences, 2012

Mutational analysis of aspartoacylase: implications for Canavan disease.

Hershfield JR et al.

Brain Research, 2007

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA et al.

European Journal of Human Genetics : Ejhg, 2000

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."