Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.C218*
Back to variants list

ASPA

NM_000049.4:p.C218*

Associated Papers

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

Nagy A et al.

Human Gene Therapy, 2024

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG et al.

Plos Genetics, 2017

28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2

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

Mendes MI et al.

Human Mutation, 2017

Molecular basis of Canavan's disease: from human to mouse.

Surendran S et al.

Journal of Child Neurology, 2003

Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.

Matalon RM et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2000

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Elpeleg ON et al.

Journal of Inherited Metabolic Disease, 1999

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Shaag A et al.

American Journal of Human Genetics, 1995

Lithium citrate as treatment of Canavan disease.

Solsona MD et al.

Clinical Neuropharmacology, 0

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."