Sentence examples for mutations in cases from inspiring English sources

The mutational spectra of the APC gene revealed no difference in frequencies of mutations in cases based on ever and never smoking status.

We also identified four previously reported MYOC mutations in cases and no controls (Tyr453MetfsX11, Gln368X, Thr377Met, and Ser393Arg).

They identified a large excess of non-synonymous de novo mutations in cases, supporting a role for de novo mutations in the etiology of this disease.

Wu BL, Kenna M, Lip V, Irons M, Platt O. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

We applied this framework to de novo mutations collected from 1,078 ASD family trios, and, whereas we affirmed a significant role for loss-of-function mutations, we found no excess of de novo loss-of-function mutations in cases with IQ above 100, suggesting that the role of de novo mutations in ASDs might reside in fundamental neurodevelopmental processes.

Importantly, this also provides the opportunity to investigate the isolated effects of rare mutations in cases where no homozygous donors are available.

In addition, we found 3 missense mutations in case number 30T (p.R831C, p.R831C, and p.V897A).

Here, we see that sample mix-up generated the heteroplasmic and somatic mutations in case 11.

At the same time, genetic counseling could include detection of Mena mutations in case of suspicion for tube closure defects, renal disorders, or cardiomyopathy.

These differences in clinical severity can be correlated with the type of mutations; the mutations in Case#1 and Case#2 were homozygous and close to and within the ARM region, respectively, while the mutations in Case#4 and Case 6 were compound heterozygous where one mutation occurred inside the ARM region but the other did not.

Other variants included hotspot mutations in IDH1 (2 cases), JAK3 (3 cases), and FLT3 (2 cases).