Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.W288*
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GALC

NM_000153.4:p.W288*

Associated Papers

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.

Margiotti K et al.

Current Issues in Molecular Biology, 2024

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Madsen AMH et al.

Jimd Reports, 2019

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."