Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.I308delFs
Back to variants list

ASPA

NM_000049.4:p.I308delFs

Associated Papers

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

Mendes MI et al.

Human Mutation, 2017

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ et al.

Advances in Experimental Medicine and Biology, 2006

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ et al.

Journal of Inherited Metabolic Disease, 2002

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."