Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T408_N409Splc
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GBA1

NM_000157.4:p.T408_N409Splc

Associated Papers

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.

Sako S et al.

Human Genome Variation, 2024

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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."