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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNNM2

Variant:p.T443delFs

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CNNM2

NM_017649.5:p.T443delFs

hg38:chr10:102919807 AC>A

Associated Papers

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.

Stuiver M et al.

American Journal of Human Genetics, 2011

21397062 (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."