Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.E214*
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ASPA

NM_000049.4:p.E214*

Associated Papers

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

Mendes MI et al.

Human Mutation, 2017

Canavan disease: an Arab scenario.

Zayed H

Gene, 2015

Long-term follow-up after gene therapy for canavan disease.

Leone P et al.

Science Translational Medicine, 2012

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

Durmaz AA et al.

Fetal and Pediatric Pathology, 2012

Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.

Zhang H et al.

Brain & Development, 2010

Mutational analysis of aspartoacylase: implications for Canavan disease.

Hershfield JR et al.

Brain Research, 2007

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

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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."