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When most of the sample is recent (n1/n = 90%), an excess of high frequency derived mutations is observed (those occurring on the long internal branch leading to the modern subset, the two additional stripped ones on figure 1C), resulting in a spurious signature of positive selection (negative HFW).
Under persistent H. pylori infection and the influence of other factors, accumulation of genetic mutations is observed.
Accordingly, pathway inactivation, frequently caused by NOTCH1 mutations, is observed in squamous carcinomas of several organs [ 14– 16].
A second cluster of mutations is observed in the Gly-rich region of FUS, encoded by exons 4 to 6, which are mostly found in sporadic patients.
Loss of E-cadherin function, associated with CDH1 mutations, is observed in diffuse-type gastric cancer and invasive lobular breast cancer.
A significant clustering of DES mutations is observed in exon 6, which encodes the C-terminal half of the coil 2 domain within the desmin rod (Fig. S1a).
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Non-codon 600 mutations were observed in 37 % of BRAF-mutated tumors.
Overall, urothelial carcinoma specific mtDNA mutations were observed in 20 of the 26 patients (76.9%).
Ninety-five nucleotide mutations were observed in P1 genes of the type II isolates (33 in RepMP4, 62 in RepMP2/3).
Fifty-nine nucleotide mutations were observed in P1 genes of type I isolates (51 in RepMP4, 8 in RepMP2/3).
No mutations were observed in closely related AHR genes (AHR1a, AHR1b, AHR2a, AHRR) in the CRISPR-Cas9-injected embryos.
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