Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.E315delFs
Back to variants list

GALC

NM_000153.4:p.E315delFs

Associated Papers

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

Asgari P et al.

Bmc Neurology, 2026

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

Aslanger AD et al.

The Turkish Journal of Pediatrics, 2022

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Tuncer FN et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Amin M et al.

Journal of Neurosciences in Rural Practice, 2017

A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves.

Güngör O et al.

Acta Neurologica Belgica, 2017

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."