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Actually, half of the mutations presented a level of heteroplasmy below 25%, which could be easily overlooked by automated sequence analysis.
Evaluation of the overall survival curves using the Kaplan-Meier method indicated that patients carrying BRCA2 mutations presented a lower breast cancer-specific survival in comparison with those resulted negative for BRCA2 mutations, within the first two years from diagnosis.
Regarding the interference with the ERK signaling, cell lines with BRAFV600D/R mutations presented a faster and stronger inhibition of phosphorylated ERK as compared to control cells with a wild-type BRAF.
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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.
Nevertheless, several studies support that tumors with TP53 null mutations present a worse outcome compared with those in which TP53 harbors mutations involving overexpression.
Women carrying BRCA2 mutations present a 25%40%% risk of breast cancer development and a 10%20%% risk of an ovarian cancer development [ 108].
Indeed, SNCA duplications have also been reported in apparently sporadic PD patients [ 50] and interestingly, patients carrying these mutations present a broad clinical phenotype, even within a given family, suggesting an influence of genetic modifiers [ 25, 51, 52].
The mutual exclusivity of KRAS (exons 3 and 4), NRAS (exons 2, 3 and 4) and BRAF mutations was confirmed, since none of the patients with a KRAS/ NRAS mutation presented a simultaneous mutation at one of the other RAS exons tested or at BRAF.
The large number of CD-associated gene mutations presents an opportunity to identify common mechanisms of disease as well as molecular processes that are of key importance to human cognition.
Naturally occurring cotton fiber mutations present an excellent opportunity to study the molecular events controlling fiber development.
Since its initial identification, the c.3909C>G mutation presented an unclear phenotype-genotype correlation.
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CEO of Professional Science Editing for Scientists @ prosciediting.com