Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.L634*
Back to variants list

GALC

NM_000153.4:p.L634*

Associated Papers

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

Asgari P et al.

Bmc Neurology, 2026

Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

Sun Y et al.

Molecular Genetics & Genomic Medicine, 2025

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.

Iacono S et al.

Neurogenetics, 2022

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Wu G et al.

Frontiers in Neuroscience, 2022

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.

Wang Y et al.

Frontiers in Neurology, 2022

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Zhang T et al.

Neuropsychiatric Disease and Treatment, 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

Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review.

Zhong J et al.

Frontiers in Neurology, 2020

Adult-onset Krabbe disease in two generations of a Chinese family.

Zhang T et al.

Annals of Translational Medicine, 2018

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

Tappino B et al.

Human Mutation, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."