Varaico: Literature-Extracted Genetic Variants

Gene:CMPK2
Variant:p.M1T
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CMPK2

NM_207315.4:p.M1T

Associated Papers

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

Zhao M et al.

Cell Discovery, 2022

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 2021

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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."