Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Y335C
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GALC

NM_000153.4:p.Y335C

Associated Papers

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

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

Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.

Spratley SJ et al.

Traffic (copenhagen, Denmark), 2016

27126738 (PubMed )
Supplement: TRA-17-908-s002.pdf

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
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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."