Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.V320M
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GALK1

NM_000154.2:p.V320M

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

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

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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."