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Exact(5)
In other respects, notably the mutations being in cis and showing a processive pattern, there were many similarities.
These attempts were however unsuccessful, likely due to the TERT promoter mutations being in a genomic region with ∼80% GC content.
This inflation may be explained by the polygenic nature of SCS, with a large number of contributing loci, each with a small effect, and/or by causative mutations being in LD with multiple genotyped SNPs [ 38- 41].
About 5% of ALS cases are currently categorized as dominant monogenic ALS, the most commonly occurring mutations being in SOD1, TDP-43 and FUS (Andersen and Al-Chalabi, 2011; Al-Chalabi et al., 2012).
Also, what is the evidence for mutations being in the order given in Figure 1? Response: References documenting haplo-insufficiency of p53 and smad4 have been given in the paper.
Similar(55)
Only two mutations were in genes recurrently mutated in myelodysplastic syndrome.
In a separate paper, Derek Smith looked at how common these mutations were in the wild.
Almost all known harmful mutations are in exons and cause disease by directing a misformed protein.
Twenty-nine mutations were in genes involved in sporulation, solventogenesis and stress response.
The sequencing results of all the five putative mutations were in complete agreement with the expected phenotyping data.
The black frames indicate the target sequences; and the PAM sequences and mutations are in blue and red, respectively.
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