Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.W134fs
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GALT

NM_000155.4:p.W134fs

Associated Papers

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia.

van Erven B et al.

Scientific Reports, 2017

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

Viggiano E et al.

Gene, 2015

The molecular biology of galactosemia.

Elsas LJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."