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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALK1

Variant:p.G347S

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GALK1

NM_000154.2:p.G347S

hg38:chr17:75758278 C>T

Associated Papers

Sugar recognition by human galactokinase.

Timson DJ et al.

Bmc Biochemistry, 2003

14596685 (PubMed )

Functional analysis of disease-causing mutations in human galactokinase.

Timson DJ et al.

European Journal of Biochemistry, 2003

12694189 (PubMed )

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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."