Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.R184H
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GALE

NM_001008216.2:p.R184H

Associated Papers

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

Kumar SU et al.

Cell Biochemistry and Biophysics, 2021

In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.

McCorvie TJ et al.

Gene, 2013

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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."