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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSD

Variant:p.G221delFs

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ARSD

NM_001669.4:p.G221delFs

hg38:chrX:2918004 AC>A

Associated Papers

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP et al.

Human Mutation, 2004

15146462 (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."