Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.E357K
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CNNM2

NM_017649.5:p.E357K

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

Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.

Xu X et al.

Molecular Genetics & Genomic Medicine, 2022

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

Tseng MH et al.

Frontiers in Genetics, 2022

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.

Li X et al.

Frontiers in Genetics, 2021

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.

Zhang H et al.

Frontiers in Pediatrics, 2021

Magnesium efflux from Drosophila Kenyon cells is critical for normal and diet-enhanced long-term memory.

Wu Y et al.

Elife, 2020

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

García-Castaño A et al.

Plos One, 2020

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A et al.

European Journal of Medical Genetics, 2019

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

Arjona FJ et al.

Plos Genetics, 2014

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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."