Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G638V
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GALC

NM_000153.4:p.G638V

Associated Papers

Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.

Page KM et al.

Blood Advances, 2022

Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.

Basheeruddin K et al.

International Journal of Neonatal Screening, 2021

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

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Guenzel AJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

An infant with myoclonic jerks, global developmental delay, and failure to thrive.

Lee CW et al.

Clinical Pediatrics, 2011

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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."