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Table 1: A list of de novo mutations identified in ASD patients.
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.
Two mutations identified in human tumours lead to a loss of programmed cell death.
The CREBBP mutations identified in our HD ALL cases are predicted to alter protein function and primarily affect the HAT domain (89%).
Genetically screening other breast tumor tissue samples revealed that none shared the exact mutations identified in the original patient, although some samples contained mutations in the same gene.
The aim of this study was to functionally characterize MC4R mutations identified in morbidly obese subjects living in Southern Italy.
Most of the OCTN2 mutations identified in humans with SCD result in loss of carnitine transport function.
Bisected vemurafenib induced lesions revealed surprising heterogeneity with different activating HRAS and NOTCH1 mutations identified in two halves of the same cSCC suggesting polyclonal origin.
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