Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D397_R398insFs
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GBA1

NM_000157.4:p.D397_R398insFs

Associated Papers

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.

Marcão A et al.

Human Mutation, 1999

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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."