Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.A533V
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MAGED2

NM_177433.3:p.A533V

Associated Papers

X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.

Buffet A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.

Walsh CJ et al.

Prenatal Diagnosis, 2024

Bartter syndrome in a female infant: A rare case report from Syria.

Hanifa H et al.

Sage Open Medical Case Reports, 2024

A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.

Ma M et al.

Bmc Nephrology, 2021

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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."