Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.T154N
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GALC

NM_001201401.2:p.T154N

Associated Papers

Ceramide levels predict clinical severity in adult-onset Krabbe disease independent of extensive white matter hyperintensities.

Yan X et al.

Neurobiology of Disease, 2025

Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.

D TK et al.

Journal of Biomolecular Structure & Dynamics, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
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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."