Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.V483delFs
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CNNM2

NM_017649.5:p.V483delFs

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

[Analysis of CNNM2 gene variant in a child with Hypomagnesemia, seizures, and mental retardation syndrome].

Wang L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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