Varaico: Literature-Extracted Genetic Variants

Gene:ASPA
Variant:p.L301P
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ASPA

NM_000049.4:p.L301P

Associated Papers

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

Mendes MI et al.

Human Mutation, 2017

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Bijarnia S et al.

Indian Journal of Pediatrics, 2013

Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

Gowda VK et al.

Annals of Indian Academy of Neurology, 0

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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."