Varaico: Literature-Extracted Genetic Variants

Gene:MDGA2
Variant:p.R404*
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MDGA2

NM_001113498.3:p.R404*

Associated Papers

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Morsy H et al.

American Journal of Human Genetics, 2026

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc5.xlsx › Full_list
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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."