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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCARB2

Variant:p.Y222_N224delFs

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SCARB2

NM_005506.4:p.Y222_N224delFs

hg38:chr4:76176470 TTAAGG>T

Associated Papers

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Pavan E et al.

International Journal of Molecular Sciences, 2024

38928321 (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."