Varaico: Literature-Extracted Genetic Variants

Gene:UGCG
Variant:p.T33Splc
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UGCG

NM_003358.3:p.T33Splc

Associated Papers

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Alfonso P et al.

Human Mutation, 2013

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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."