This mutation has already been described in the catalog of somatic mutations in cancer (COSMIC) database 18 with a functional consequence prediction (Functional Analysis through Hidden Markov Models (FATHMM)) score equal to 0.99 19 , forerunning a highly significant functional impact on the TET2 protein.
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Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.
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