Sentence examples for mutations present the from inspiring English sources

Generally, about half of the patients with BRCA1 gene mutations present the phenotype ER/HER2/EGFR of the basal type of tumor, which is usually associated with poor prognosis [ 26- 28].

However, if there are hypomorphic deleterious mutations present, the optimal level of compensation may be higher than 2-fold.

Also, four studies have previously noted monozygotic twins with identical WT1 mutations presenting the same phenotypes [ 1, 3, 9, 10].

No mutations were detected in BRAF exon 15 in rectal carcinomas of the test series, but one (4%) MSI-H sigmoid carcinoma with no KRAS mutation presented the mutation c.1799T > A (V600E).

All mutations present in the German population are either close to one of the three G6P or NADP+ units or to the interface of the two monomers.

Furthermore, massively parallel sequencing robustly and accurately identified all mutations present in the dataset.

These correspond to mutations present within the source genes that gave rise to each subfamily.

Thus, the mutations present in each of the five individuals in this study likely result in loss of function.

To determine the mutations present in each clone, it was necessary to de-multiplex the samples.

In contrast, the ratio decreased to 0.8 (5/6) for the mutations present only in single individual.

In a paper in the Journal of Medical Ethics, Smith says modern genetic studies have confirmed that the sperm of older men contains a greater number of mutations and that a minority of those mutations present a risk to the health of future children.