Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.R423*
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SLC37A4

NM_001164277.2:p.R423*

Associated Papers

CDG due to Defective Membrane Transporters: Update.

Quelhas D et al.

Journal of Inherited Metabolic Disease, 2026

CDG or not CDG.

Freeze HH et al.

Journal of Inherited Metabolic Disease, 2022

SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.

Raynor A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

Ng BG et al.

American Journal of Human Genetics, 2021

SLC37A4-CDG: Second patient.

Wilson MP et al.

Jimd Reports, 2021

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.

Marquardt T et al.

Molecular Genetics and Metabolism Reports, 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."