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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.I243_W248del6

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GBA1

NM_000157.4:p.I243_W248del6

hg38:chr1:155238150 CCCAGGTCTGGTGGTAGAT>C

Associated Papers

CRISPR/Cas9 Editing for Gaucher Disease Modelling.

Pavan E et al.

International Journal of Molecular Sciences, 2020

32380730 (PubMed )

Supplement: ijms-21-03268-s001.pdf

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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."