Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G298D
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ARSA

NM_000487.6:p.G298D

Associated Papers

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.

Pekgül F et al.

Molecular Genetics and Metabolism Reports, 2020

Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.

Rafi MA et al.

Molecular Genetics and Metabolism, 2003

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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."