Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.Q391_H392Splc
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ALG9

NM_024740.2:p.Q391_H392Splc

Associated Papers

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Wopereis S et al.

Biochimica Et Biophysica Acta, 2005

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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."