Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.Q169H
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GALT

NM_000155.4:p.Q169H

Associated Papers

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.

Choi R et al.

Bmc Medical Genetics, 2014

Low prevalence of classical galactosemia in Korean population.

Lee BH et al.

Journal of Human Genetics, 2011

Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.

Ko DH et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.

Ko DH et al.

Clinical Chemistry, 2010

Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Milánkovics I et al.

Wiener Klinische Wochenschrift, 2010

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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."