Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.P482A
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CNNM2

NM_017649.5:p.P482A

Associated Papers

Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.

Li H et al.

Frontiers in Genetics, 2025

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone.

Petrakis I et al.

International Journal of Molecular Sciences, 2022

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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."