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Results of current meta-analysis revealed that 60 out of 62 selected studies focused only on OGG1 mutation (Ser326Cys) for its role in carcinogenesis and the majority of studies (60%) concluded association of this mutation with different cancers (Table 1).
The BRCA1 and BRCA2 defective tumors demonstrate specific pattern of genetic alterations required for tumor genesis; for example, Myb amplification and p53 mutation with different pattern frequently occur in BRCA1 deficient tumors compared to sporadic ones; this is in contrast to Her2 and cyclin D1 overexpression.
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Like dumpy, these genes were characterized primarily by mutations with different and sometimes overlapping phenotypes, complex patterns of complementation, and genetic fine structure maps exhibiting separable clusters of mutant sites called subloci.
The patients with 6 SOD1 gene mutations with different clinical and genetic subtypes (dominant versus recessive inheritance) of ALS and very variable survival times had a rather uniform metabolomic signature suggesting a common neurodegenerative pathway for patients with this type of ALS, but no single abnormal metabolite could be identified.
We present evolutionary and experimental evidence for cis alternative splicing of dumpy transcripts and argue that these observations, along with the distribution within the gene of nonsense mutations with different dumpy mutant phenotypes, makes it likely that alternative splicing underlies the genetic and phenotypic complexity of this long studied, paradigmatic Drosophila complex gene.
Different mutations with different therapeutic impact can exist synchronously in a patient[ 81]].
In CFTR exon 12, ExSpeU1 cf11 rescued all 5′ss mutations with different efficiency.
We can allow different number of continuous recurrent mutations with different combinations of c r and c m.
We next investigated the consequences of 20 exonic missense mutations with different predicted effects on putative enhancer and suppressor sequences.
Regarding the performance for mutations with different magnitudes of stability changes, all methods yielded a better performance for mutations causing 'large' stability changes.
The substitution spectra for wild-type and MMR-deficient lines (Fig. 2) differed substantially, demonstrating that the MMR system corrects different classes of pre-mutations with different efficiencies.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com