Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT1
Variant:p.Q188R
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B4GALT1

NM_001497.4:p.Q188R

Associated Papers

Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

Treacy EP et al.

Jimd Reports, 2021

Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look.

Conte F et al.

Biochimica Et Biophysica Acta. General Subjects, 2021

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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."