Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.M325V
Back to variants list

GALC

NM_000153.4:p.M325V

Associated Papers

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Frezatti RSS et al.

Brain Communications, 2024

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

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."