Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.H186P
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GALT

NM_000155.4:p.H186P

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

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

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