Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.L52F
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CNNM2

NM_017649.5:p.L52F

Associated Papers

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

Li X et al.

Frontiers in Genetics, 2021

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

García-Castaño A et al.

Plos One, 2020

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.

Long S et al.

Frontiers in Neurology, 2019

31139143 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1__gene_and_CNV
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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."