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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNNM2

Variant:p.E431K

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CNNM2

NM_017649.5:p.E431K

hg38:chr10:102919771 G>A

Associated Papers

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

Bosman W et al.

Scientific Reports, 2024

38519529 (PubMed )

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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."