A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.

Cell Mol Biol Lett · 2022 · PMC9700897 · PMID 36434495

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highly significantno p-value reported

In the case of the discussed mutation, its localization and potential influence on interactions seem to be highly significant.

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