Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.K628insFs
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GALC

NM_000153.4:p.K628insFs

Associated Papers

Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.

Page KM et al.

Blood Advances, 2022

Precision newborn screening for lysosomal disorders.

Minter Baerg MM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."