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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.
A second transgenic desmin mouse model expressing a desmin mutant with a small in-frame deletion of seven amino acids was reported in 2001 [ 194] recapitulating the human mutation reported by [ 121].
The probe intensities for each mutation reported by the software were examined on the forward and reverse strands for every occurrence of a specific base position located on the chip.
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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).
Our sequencing experiments did not reveal any of the mutations reported by Hou et al (2012).
In this work, we account for somatic mutations reported by multiple studies [ 10, 11, 16].
Primers were designed to detect BRCA1 and BRCA2 mutations according to mutations reported by Musolino et al., 2007 [ 36].
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