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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CMPK2

Variant:p.M1L

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CMPK2

NM_207315.4:p.M1L

hg38:chr2:6865696 T>G

Associated Papers

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.

Zhao M et al.

Cell Discovery, 2022

36443312 (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."