Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.I260F
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CNNM2

NM_017649.5:p.I260F

Associated Papers

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

Bosman W et al.

Scientific Reports, 2024

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

García-Castaño A et al.

Plos One, 2020

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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."