Varaico: Literature-Extracted Genetic Variants

Gene:DPAGT1
Variant:p.A195G
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DPAGT1

NM_001382.4:p.A195G

Associated Papers

DPAGT1-CDG: Recurrent fetal death.

Tao H et al.

Birth Defects Research, 2023

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Özsoy Ö et al.

Molecular Syndromology, 2023

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Ng BG et al.

Jimd Reports, 2019

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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."