Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G575insFs
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GALC

NM_000153.4:p.G575insFs

Associated Papers

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

Page KM et al.

Blood Advances, 2022

Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.

Basheeruddin K et al.

International Journal of Neonatal Screening, 2021

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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."