Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.L483insFs
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GBA1

NM_000157.4:p.L483insFs

Associated Papers

Neurological features in Gaucher's disease during enzyme replacement therapy.

Ono H et al.

Acta Paediatrica (oslo, Norway : 1992), 2001

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease.

Ida H et al.

Human Genetics, 1996

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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."