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Alternatively, as these mutations are mostly in Exon 7 (of 9), some functions of ZEB1 may be retained.
NLRP3 mutations are missense mutations located mostly in exon 3 and involving the so-called NACHT domain [ 6].
MEFV gene has over 218 mutations, and these mutations have been identified mostly in exon 2 (E148Q) and exon 10 (M694I, M694I, V726A, M680I) [ 11].
KRAS mutations were detected in 72 tumours (31.9%), mostly in exon 2, in codon 12 in 45 cases (20.0%) and in codon 13 in 16 cases (7.0%), while BRAF V600E mutations were found in 6 cases (2.6%).
By comparing 2 sequenced PCR fragments from the whole gene (exon 1, intron and exon 2) these authors found 21 informative substitution sites, mostly in exon 2, which defined 5-6 genotypes.
Disease-causing mutations occur mostly in exon 10 but also occur in exons 1, 2, 3, 5, and 9. Mutations in each of the two MEFV alleles are found in 85% of patients with FMF, whilst the great majority of individuals with a single mutated allele are healthy carriers [ 6].
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In addition, dysregulation of the HER2 pathway, in particular HER2 mutations (mostly, in-frame exon 20 insertions), may represent a possible novel therapeutic target in NSCLC, paving the way for a new generation of targeted agents in NSCLC.
A well-known effect of TEs is to disrupt the function of the inserted gene, mostly in exons.
Along with 5-hmC reports, 5-fC was found in DNA repeats, CGI promoters and gene bodies (mostly in exons) of transcribed H3K4me3-marked genes, paralleling Tet1 binding.
Up until recently, all reported mutations have been in coding exons, mostly in exons 9 and 10, which encode the substrate (androgen) binding site and haem-binding domains, respectively [ 9].
More than 80 different disease-causing mutations have been identified, mostly clustered in exon 3 but also found in exons 4 and 6, either arising de novo or transmitted in an autosomal-dominant manner (1, 2).
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