Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.M117L
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GALC

NM_000153.4:p.M117L

Associated Papers

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.

Iacono D et al.

Neurobiology of Disease, 2022

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

Analysis of age-related changes in psychosine metabolism in the human brain.

Marshall MS et al.

Plos One, 2018

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."