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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSA

Variant:p.S97insFs

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ARSA

NM_000487.6:p.S97insFs

hg38:chr22:50627342 T>TC

Associated Papers

An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD).

Perkins KJ et al.

Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005

19565006 (PubMed )

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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."