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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.P240L

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GBA1

NM_000157.4:p.P240L

hg38:chr1:155238176 G>A

Associated Papers

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Kim YM et al.

Orphanet Journal of Rare Diseases, 2020

33176831 (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."