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Exact(5)

MAP was also demonstrated to detect four additional types of mutations with multiple base mismatches with respect to the wild type sequence.

Without a controlled vocabulary or a clear definition of what constitutes an activating mutation, especially in the case of mutations with multiple known phenotypes, systematic identification will continue to be a challenge.

This proportion is lower than in other studies that have verified putative mutations with multiple rounds of PCR.

In this codon substitution model, codon mutations with multiple nucleotide changes are also taken into account, and were shown to increase significantly the likelihood of observed substitutions [ 26, 27].

Pathologic CRs were obtained in 2 KRAS mutant patients, harboring c.35 G>T and c.35 G>A mutations, with multiple L-L metastases and single liver plus single lung metastases, respectively, who obtained a clinical partial response after treatment.

Similar(55)

Thirty five of the fifty four MAGE mutations (64.8%) in our Validation and Discovery Screens are from samples that exhibit more than one mutation, often with multiple mutations in the same gene.

These are the recurrent mutations often with multiple alleles in figure 1 B. The recurrence of the mutations in table 1, even at low abundance, suggests that these are likely to be real population components.

When using a larger set of reference mutations, and with multiple highly similar sequences, the problem of finding a relaxed value for read percentage with non-reference nucleotide that allowed detection of the entire mutation set was amplified.

Single site evaluation to detect prognostic gene mutations, even with multiple samples obtained at that site, may lead to substantial false-negative marker assessments; this represents an impediment to clinically relevant tissue sampling.

Kearns Sayre syndrome resulting from compound heterozygous RRM2B mutations with secondary multiple mitochondrial DNA deletions has also been reported, thus confirming the more severe nature of recessively inherited adult RRM2B mutations and expanding the clinical phenotype associated with RRM2B-related mitochondrial disease beyond that of PEO and PEO-plus syndromes (Pitceathly et al., 2011).

Sites with only one mutation in a particular order are more likely to represent a true source-gene mutation than sites with multiple mutations, which probably consist of a combination of source-gene and post-insertion mutations.

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