Varaico: Literature-Extracted Genetic Variants

Gene:GALM
Variant:p.N188S
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GALM

NM_138801.3:p.N188S

Associated Papers

Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.

Ohlsson A et al.

Journal of Inherited Metabolic Disease, 2019

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."