Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.L484_F486del0
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GBA2

NM_020944.3:p.L484_F486del0

Associated Papers

[Isolated spastic paraparesis disclosing Krabbe disease in adult age].

Bataillard M et al.

Revue Neurologique, 1997

[Clinical and genetic study of a family with hereditary essential myoclonus].

Gualandri V et al.

Revue Neurologique, 1987

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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."