Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.N70S
Back to variants list

ASPA

NM_000049.4:p.N70S

Associated Papers

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

Mendes MI et al.

Human Mutation, 2017

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

Zhang H et al.

Brain & Development, 2010

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."