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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.C43delFs

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GBA1

NM_000157.4:p.C43delFs

hg38:chr1:155240064 GC>G

Associated Papers

Gaucher's disease in Lithuania: its diagnosis and treatment.

Kleinotienė G et al.

Medicina (kaunas, Lithuania), 2011

22112991 (PubMed )

[Fabry's disease: a clinical case and literature review].

Dobrovolskiene R et al.

Medicina (kaunas, Lithuania), 2007

17551292 (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."