Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.R126C
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MAN2B1

NM_000528.4:p.R126C

Associated Papers

Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.

Foulquier F et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

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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."