Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.G179E
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GALK1

NM_000154.2:p.G179E

Associated Papers

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Özgül RK et al.

Journal of Human Genetics, 2013

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Calderon FR et al.

Human Mutation, 2007

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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."