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Mutations that only occur in some brain cells may account for a significant fraction of specific types of epilepsy, according to a new Columbia study.
Tumors with mutations that only affect p16INK4 could potentially be addressed with inhibitors of CDK4/6.
Association of cohesin with human developmental disorders occurring relatively late in development also proposed a functional role in gene expression regulation, because mutations that only affect sister-chromatid cohesion would predict to cause lethality early in development.
They point towards mutations that only have a pathogenic effect in a homozygous form.
In clinical samples with some assays it was possible to detect mutations that only represented 5% of the total 2 peak areas.
Further, we observed distinct mutations that only occurred in samples with negative NS1 results (indicated with asterisks in Figure 1) at AA residues 98(T), 101(E), 175(H), 178(A), 279(F), and 290(Q) for DENV-1; and residues 69(R), and 168(R) for DENV-3.
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One of the two drugs, ivacaftor, has already been used on its own in children suffering from a genetic mutation that only causes 5% of the disease, with considerable success.
This effect is expected to be largest for mutations that affect only male fitness and absent for mutations that affect only female fitness.
However, the comparison of the paired normal and tumor samples reveals mutations that are only present in the normal samples, which contradicts the common assumption that blood samples contain only germline CNV (Figure 4).
Second, reads that can only be mapped with many mismatches should not be considered and as a consequence, mutations that are only backed by such reads should be discarded from further analysis.
Then, they zeroed in on 10 mutations that occurred only in the cancer cells, apparently spurring abnormal growth, preventing the cells from suppressing that growth and enabling them to fight off chemotherapy.
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