Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G323R
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GALC

NM_000153.4:p.G323R

Associated Papers

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

Asgari P et al.

Bmc Neurology, 2026

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

Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.

Nasir G et al.

Frontiers in Medicine, 2021

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

Madsen AMH et al.

Jimd Reports, 2019

Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

Zhao S et al.

Clinical Genetics, 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

History, genetic, and recent advances on Krabbe disease.

Graziano AC et al.

Gene, 2015

Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.

Berardi AS et al.

Molecular Genetics and Metabolism, 2014

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B et al.

Human Mutation, 2010

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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."