Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.I144delFs
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GALC

NM_000153.4:p.I144delFs

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

38664407 (PubMed )
Supplement: 41531_2024_703_MOESM1_ESM.pdf

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

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

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."