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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALK1

Variant:p.G42R

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GALK1

NM_000154.2:p.G42R

hg38:chr17:75765013 C>T

Associated Papers

Galactokinase deficiency: lessons from the GalNet registry.

Rubio-Gozalbo ME et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32807972 (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."