Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.E488_E492del0
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MAGED2

NM_177433.3:p.E488_E492del0

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

A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios.

Wu X et al.

Frontiers in Pediatrics, 2021

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Legrand A et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2018

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Laghmani K et al.

The New England Journal of Medicine, 2016

27120771 (PubMed )
Supplement: nejmoa1507629_appendix.pdf
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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."