Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.G50R
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GALK1

NM_000154.2:p.G50R

Associated Papers

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

Hennermann JB et al.

Journal of Inherited Metabolic Disease, 2011

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

Reich S et al.

Pediatric Research, 2002

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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."