Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.W629fs
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GALC

NM_000153.4:p.W629fs

Associated Papers

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Guenzel AJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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."