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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAL

Variant:p.G59R

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GAL

NM_015973.5:p.G59R

hg38:chr11:68688052 G>C

Associated Papers

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B et al.

Human Mutation, 2010

20886637 (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."