Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.*686Q
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GALC

NM_000153.4:p.*686Q

Associated Papers

Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.

Gnanakumar A et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Beltran-Quintero ML et al.

Orphanet Journal of Rare Diseases, 2019

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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."