Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.G394E
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B3GLCT

NM_194318.4:p.G394E

Associated Papers

Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.

Zhang A et al.

The Journal of Biological Chemistry, 2021

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Weh E et al.

Plos One, 2017

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Weh E et al.

Clinical Genetics, 2014

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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."