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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUSB

Variant:p.S485insFs

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GUSB

NM_000181.4:p.S485insFs

hg38:chr7:65970302 T>TA

Associated Papers

Curated incidence of lysosomal storage diseases from the Taiwan Biobank.

Tsai MM et al.

Npj Genomic Medicine, 2023

37741878 (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."