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As it was pointed out in [32], a significant part of the duplications in fungi could be concealed as a result of an intensive mutation process.
Nevertheless, these studies point out the need for more intensive mutation screening than coding region and splice junction sequencing.
Haplotyping has also been useful in redirecting mutation analysis, for example if the majority of affected individuals in the family shared a BRCA1 or BRCA2 haplotype but the screened individual(s) did not, and to prioritize families for more intensive mutation analysis such as full sequencing or genomic rearrangement analysis.
Similar(57)
Although many candidate cancer gene loci have been identified, the labor-intensive mutation analysis severely hampers finding the corresponding cancer gene.
To date, no such disease gene has been identified yet despite quite intensive conventional mutation screening (Roll, Massacrier, Délepine, Lathrop & Szepetowski, our unpublished data).
Despite intensive and conventional mutation screening, the ICCA gene remains unknown to date.
Furthermore, the intensive search for mutations based on confidence in the diagnostic specificity of GOM resulted in discovery of four novel, previously unreported mutations, among them the first duplication of three codons.
On the basis of intensive literature review and mutation prediction of these genetic variants, we focused on a heterozygous mutation (p.Asp208His/D208H; c.622G>C), reference sequence NM_182476.2) of the COQ6 gene, whose function is essential but not redundant.
But this does not appear to be the case: despite intensive efforts, no point mutations of MYC have been reported from solid tumours.
Thus, the introduced mutation promoted more intensive viral uptake in the mouse respiratory tract.
Since symbolic preprocessing is very cost-intensive, they further compute the mutation ratio only once per test.
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