Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.D409H
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ARSA

NM_000487.6:p.D409H

Associated Papers

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Paciotti S et al.

Journal of Clinical Medicine, 2020

Lysosomal storage diseases.

Ferreira CR et al.

Translational Science of Rare Diseases, 2017

Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression.

Valayannopoulos V

Handbook of Clinical Neurology, 2013

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK et al.

Pediatric Research, 2003

Gaucher disease: gene frequencies and genotype/phenotype correlations.

Grabowski GA

Genetic Testing, 1997

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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."