Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.A28T
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CNNM2

NM_017649.5:p.A28T

Associated Papers

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

Li H et al.

Frontiers in Genetics, 2025

40612795 (PubMed )
Supplement: Supplementaryfile1.docx

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders.

Panda PK et al.

Annals of Indian Academy of Neurology, 0

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