Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.I144fs
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GALC

NM_000153.4:p.I144fs

Associated Papers

Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.

Ngo KJ et al.

Npj Parkinson's Disease, 2024

Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Krieg SI et al.

Orphanet Journal of Rare Diseases, 2020

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

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."