Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.H116H
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GALC

NM_000153.4:p.H116H

Associated Papers

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

Saavedra-Matiz CA et al.

Journal of Neuroscience Research, 2016

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini JJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."