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The distributions of missense and silent mutations for the 136 SNP present in only one breed (private SNP) and for the 168 SNP shared by all six breeds indicate a significant bias, with missense mutations more frequent among private SNP (chi, P < 10-2), selectiong selection pressure related to breeding practices.
Similarly, in our study the most prevalent mutations detected were deletions in exon 19, which accounted for 61.9% of all EGFR mutations, more frequent as published in other populations (Sharma et al, 2007; Tanaka et al, 2009; Penzel et al, 2011).
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In this study BRCA2 mutations were more frequent than BRCA1 mutations, although it should be taken into account that a high proportion of families are carrying the BRCA2 c.8764_8765delAG founder mutation.
In patients younger than 50 years (n = 45), PIK3CA mutations were not observed and TP53 mutations were more frequent than in the older age groups.
60 There is no current explanation for sex differences: KCNJ5 mutations are more frequent in women and ATPase mutations are more frequent in men.
In MDSs, U2AF1 mutations are more frequent in ASXL1-mutated than in ASXL1-wildtype cases [ 38, 42].
In general, EGFR mutations were more frequent in Asian populations and KRAS mutations were more frequent in Western populations.
Also, nonsense mutations were more frequent in the PEST domain and missense mutations in the HD domain (p < 0.0001).
DNMT3A mutations are more frequent in AML with NPM1 and FLT3 mutations, infrequently found in ASXL1-mutated cases, and very rare in cases with translocations [ 24, 101].
These data suggest that the spectrum and frequency of SPINK1 mutations vary geographically among different populations; IVS 3+2T>C mutations are more common in Chinese children with ICP, whereas N34S mutations are more frequent in Western populations.
EGFR mutations were more frequent in non-smoking patients (p = 0.008), and EGFR mutations were associated with EGFR FISH positivity (p < 0.0001).
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