Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.A60T
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GALC

NM_000153.4:p.A60T

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

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

Saavedra-Matiz CA et al.

Journal of Neuroscience Research, 2016

Molecular heterogeneity of Krabbe disease.

Fu L et al.

Journal of Inherited Metabolic Disease, 1999

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.

Wenger DA et al.

Human Mutation, 1997

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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."