Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.A88P
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SLC35A2

NM_005660.3:p.A88P

Associated Papers

SLC35A2-CDG: Novel variant and review.

Quelhas D et al.

Molecular Genetics and Metabolism Reports, 2021

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.

Abuduxikuer K et al.

Frontiers in Genetics, 2021

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

Vals MA et al.

Journal of Inherited Metabolic Disease, 2019

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Bruneel A et al.

Electrophoresis, 2018

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Ashikov A et al.

Human Molecular Genetics, 2018

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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."