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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALC

Variant:p.E113E

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GALC

NM_000153.4:p.E113E

hg38:chr14:87986592 C>T

Associated Papers

Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.

Bradbury AM et al.

The Journal of Clinical Investigation, 2020

32773406 (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."