Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.L634delFs
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GALC

NM_000153.4:p.L634delFs

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 GALC gene mutation associated with adult-onset Krabbe disease: a case report.

He Z et al.

Neurocase, 2022

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

Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.

Zhang C et al.

Journal of Molecular Neuroscience : Mn, 2021

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

Zhang T et al.

Neuropsychiatric Disease and Treatment, 2021

Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.

Xia Z et al.

Molecular Genetics & Genomic Medicine, 2020

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.

Bascou NA 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

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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."