Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.S186T
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CNNM2

NM_017649.5:p.S186T

Associated Papers

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

Bosman W et al.

Scientific Reports, 2024

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

Tseng MH et al.

Frontiers in Genetics, 2022

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."