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We added rpoB N474K, described by Villar et al.53 We also considered the 10 novel mutations reported by Dordel et al.54 We found three of the mutations (PBP1 H499Y, PBP2 T31M and PBP2 D156Y) in our derivation set.
The number of cases documented, in particular for the mutations reported by us, is not exhaustive and broad enough to build up a relationship.
The original database was established in the 1990s, with mutations reported by individual laboratories (12).
In this work, we account for somatic mutations reported by multiple studies [ 10, 11, 16].
Our sequencing experiments did not reveal any of the mutations reported by Hou et al (2012).
Primers were designed to detect BRCA1 and BRCA2 mutations according to mutations reported by Musolino et al., 2007 [ 36].
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In a puzzling case, as it is mentioned above, the Ala to Val mutation reported by Sandgren et al., the mutated residue is spatially distant from the active site (~20 Å) [ 17].
Additionally, we have identified the relatively rare rs1799950 SNP in BRCA1 which is a p.Gln356Arg mutation reported by the 1000Genomes project to have an MAF of 0.026.
Alternatively, circulating plasma DNA with BRAF mutation reported by Denis et al 78 may aid in predicting patients who may respond to BRAF inhibitor therapy.
The probe intensities for each mutation reported by the software were examined on the forward and reverse stands for every instance of that base position on the chip.
The difference in rates of Tp53 mutation reported by these studies is likely to be due in part to the different methodologies used to assess the presence of p53 mutations (for a review, see Robles and Harris, 2010).
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