Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.R480L
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CNNM2

NM_017649.5:p.R480L

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

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure.

Tseng MH et al.

Frontiers in Genetics, 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."