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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALC

Variant:p.R290R

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GALC

NM_000153.4:p.R290R

hg38:chr14:87968373 G>A

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."