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After removing one genome with less than the optimal 20- to 30-fold sequence coverage, we identified 544 putative polymorphisms that included all of the known and selected mutations apart from insertions.
Along with the above similarities, each inspected species has its own unique mutations, apart from the ibex and goat which have identical sequences.
Most of the haplotypes found in the crater lakes were only a few mutations apart from the ancestral ones, providing evidence that these populations have diverged rather recently.
Both datasets include ΔΔG values of non-redundant single-site mutations (apart from a single mutation in Potapov-DB that was disregarded).
No further mutations, apart from polymorphisms and 3 rare unclassified variants, were found after scanning the whole BRCA1 and BRCA2 coding sequence.
Since most of these strains are fully sequenced and do not possess any other mutations apart from the AcrER334L that does not confer kanamycin resistance, we could work directly with these strains.
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No disease-associated mutation, apart from the SNPs assayed, could be identified.
On the other hand, all T790M-positive tumors (cases 1, 6, 7, 8, 9, 10 and 11) lack an additional rare mutation apart from the presence of a frequent inhibitor-sensitive EGFR mutation.
These results indicate that the p53R270H point mutation, apart from having a dominant-negative affect on the wild-type p53 allele, may also acquire gain-of-function, which facilitates acceleration of mammary tumour development.
The Okinawa samples were more than seven mutation steps apart from the other Southeast Asian samples.
To examine the effect of BRCA1/2 mutations on mortality apart from their known effects on cancer risk, we studied the association between mutations and mortality in the absence of cancer in a cohort of first-degree relatives (FDR) of known BRCA1/2 mutation carriers and non-carriers.
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CEO of Professional Science Editing for Scientists @ prosciediting.com