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Exact(7)
Amino acid residues at positions 42 and 167 showed mutations in case of Bangladeshi isolates among which position 167 showed glycine instead of glutamic acid for the isolates circulating in 2014 (Hossain et al. 2015) and only one isolate from 2015 (BAN_SH_SU-3_2015) (Additional file 3: Figure S2).
Here, we see that sample mix-up generated the heteroplasmic and somatic mutations in case 11.
In addition, we found 3 missense mutations in case number 30T (p.R831C, p.R831C, and p.V897A).
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.
2. Mutations or mutation series are not connected with conjunctions such as and and or; in this case, the impact is grounded to the nearest detected mutation or mutations (in case the nearest mutations are connected by conjunctions, the impact is grounded to each mutation).
Similar(53)
The mutational spectra of the APC gene revealed no difference in frequencies of mutations in cases based on ever and never smoking status.
Importantly, this also provides the opportunity to investigate the isolated effects of rare mutations in cases where no homozygous donors are available.
Breast MRI could be indicated for screening in high-risk patients (i.e. BRCA mutations), in cases where multiple tumour foci are suspected, and for evaluation of the effects of neoadjuvant chemotherapy [2, 3].
The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD (MTNR1A case 3.6% vs controls 4.4%; MTNR1B case 4.7% vs 3% controls).
NRAS mutations were found in cases 12 and 78, and KRAS mutations in cases 79 and 89 (Table 1).
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