Varaico: Literature-Extracted Genetic Variants

Gene:PCK2
Variant:p.P170L
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PCK2

NM_004563.4:p.P170L

Associated Papers

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.

Sondheimer N et al.

Hgg Advances, 2023

The late radiotherapy normal tissue injury phenotypes of telangiectasia, fibrosis and atrophy in breast cancer patients have distinct genotype-dependent causes.

Giotopoulos G et al.

British Journal of Cancer, 2007

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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."