Varaico: Literature-Extracted Genetic Variants

Gene:UGGT1
Variant:p.A331T
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UGGT1

NM_020120.4:p.A331T

Associated Papers

SLC35A2-CDG: Novel variant and review.

Quelhas D et al.

Molecular Genetics and Metabolism Reports, 2021

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA et al.

Journal of Inherited Metabolic Disease, 2019

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K et al.

Journal of Inherited Metabolic Disease, 2015

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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."