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Exact(4)
There was no consensus when the intron was absent, assumed to be the ancestral state (232 occurrences, not shown), nor in the four cases of insertion (Table S2).
In cases of insertion within a predicted gene, we analyzed whether the insertion had occurred in 5′ UTR, exons, introns, or 3′ UTR.
For a 2-year period (1993-1995) we prospectively monitored all ICU placements of narrow-bore enteral feeding tubes in order to identify cases of insertion into the tracheopulmonary system.
We found 33 cases of insertion or deletion of more than three codons associated with intron loss these might be due to an imperfect intron removal mechanism, such as degeneration of splice signals and subsequent deletions with preservation of the reading frame phase, or imprecise intron removal by NHEJ/MMEJ pathway.
Similar(56)
In total, 141 cases of insertions, deletions and rearrangements could be detected.
In all of the cases, heteroplasmy was produced by a point mutation and no cases of insertions or deletions have been detected.
In all of the families the presence of mtDNA heteroplasmy resulted from three new point mutations, and no cases of insertions or deletions were identified.
Thus, a region that has been deleted will have less reads mapped to it, and vice versa in cases of insertions.
Similar scenarios may occur in case of an insertion of a letter at the beginning of u i which is identical to the last letter of s a, as well as in cases of insertions and deletions at the end of u i of letters identical to the first letter of s b.
Given the importance of a rapid and reliable test to confirm the diagnosis of APL, it is critical that the possibility of a false negative result using standard FISH probes is considered and that alternate probes are available for rare cases of insertions resulting in the PML/RARA fusion.
In case of insertion, the newly inserted sequence would be composed of segments of different RUs.
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