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Consistent differences between NGS sequences and the reference genome may indicate mutations in the sample.
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There was a significant fraction or unresolved signals in >20 kb regions, which may indicate mutation of heavy methylation of units, as BamHI is sensitive to cytosine methylation (McClelland and Nelson, 1985).
This variability may indicate some mutation-specific effect, as it has been described loss-of-function, inactivating and activating mutations [ 77].
This may indicate that mutation of either site results in derepression of the UP element, thereby unmasking the effect of other proteins that then act as activators.
This may indicate a mutation cluster at this site in the second extra-cellular loop and confirms the physiological importance of the second loop.
Since similar phenotypes resulted from two independent mutations in RS2, it may indicate that the mutations in the gene are deleterious to enzyme function and the detected raffinose in these lines is the result of one or more additional soybean raffinose synthase genes.
We reasoned that this could serve as an estimate of whether mutations accumulate over time during the culturing of tumor cell lines, which in turn may indicate whether such mutations offer a growth advantage in vitro.
Interestingly, whereas the rate of the p. (Phe508del) mutation is similar to that in the neighboring Lebanese CF population and the Jewish CF populations from Balkani (Turkish and Greeks) and Ashkenazi origins [ 1, 15], the deletion of exons 19 21 (c.2988+1Kbdel8.6Kb) was only present in Palestinian Arabs which may indicate that this mutation is a founder mutation among this population [ 18, 19].
These preliminary data may indicate that uncommon mutations in general are more probably associated to sensitivity rather than resistance to therapy.
The fact that these GNAQ-mutated melanocytic lesions seem to be derived from non-epithelium related melanocytes may indicate that GNAQ mutations preferentially occur in melanocytes present in extra-epithelial structures such as leptomeninges, dermis and uvea.
Alternatively, the limited success of these variants may indicate that such mutations are only adaptive over the short-term to atypically low antibiotic use in a certain community [ 9].
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