Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G512V
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GALC

NM_000153.4:p.G512V

Associated Papers

Carrier screening for Krabbe disease in an isolated inbred community.

Ezer S et al.

American Journal of Medical Genetics. Part A, 2022

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Li R et al.

Frontiers in Pediatrics, 2022

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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."