Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L288delFs
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GBA1

NM_000157.4:p.L288delFs

Associated Papers

The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.

Savolainen MJ et al.

Molecular Genetics and Metabolism Reports, 2021

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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."