Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.Y412H
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GBA1

NM_000157.4:p.Y412H

Associated Papers

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Giraldo P et al.

Orphanet Journal of Rare Diseases, 2012

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.

Cormand B et al.

Human Mutation, 1998

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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."