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Somatic mutations identified from enrolled patients.
Table 1: A list of de novo mutations identified in ASD patients.
The latter represent the majority of disease-linked mutations identified to date.
There was no significant difference between the total number of mutations identified on the pre and post samples.
Welander, J. et al. Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
Miranda, C., Mazzoni, M., Sensi, M., Pierotti, M. A. & Greco, A. Functional characterization of NTRK1 mutations identified in melanoma.
In total, 112/133 candidate somatic mutations identified in Patients 1 4 were sequenced with this approach (Supplementary Table 3).
One of the mutations identified in the study, for instance, distorts a protein that is involved in guiding neurons to their proper places during brain development.
Several of the mutations identified in people occur in the same region.
The CREBBP mutations identified in our HD ALL cases are predicted to alter protein function and primarily affect the HAT domain (89%).
The signature analysis of each subclone, represented by a cluster of mutations identified by the Dirichlet process, was limited to clusters with more than 100 substitutions.
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