Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.P367R
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ACTB

NM_001101.5:p.P367R

Associated Papers

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

Zhao M et al.

Cell Discovery, 2022

36443312 (PubMed )
Supplement: 41421_2022_475_MOESM1_ESM.docx
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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."