Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.N272D
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CPOX

NM_000097.7:p.N272D

Associated Papers

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD et al.

American Journal of Human Genetics, 2016

27132592 (PubMed )
Supplement: mmc2.pdf

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

Smith PM et al.

Human Molecular Genetics, 2014

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