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The clinical spectrum of THAP1 mutations is wide.
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Pooled data from nine studies that looked for D-loop mutations in over 400 HNSCCs indicate that around a third of HNSCCs harbour D-loop mutations; however, there is wide variation between different studies (range 2 67% Table 1).
As shown in Fig. 2C, all mutations of classes I-IV impaired significantly and differently the interaction between N-RPGR and RID of RPGRIP1α1 and the spectrum of the severity effects of mutations was relatively wide.
One approach to distinguish such driver genes from the passenger mutations is to integrate genome-wide copy number and expression data, which enables the identification of genes whose transcriptional activation or repression is associated with a copy number change in a cancer cell.
67– 72 The clinical spectrum of MUTYH germline mutations is heterogeneous and can include a wide range of phenotypes (Table 1).
Accordingly, a wide range of genetic mutations is involved, and the same mutations may exhibit a different impact.
A wide spectrum of ATM mutations is found in AT patients.
We estimate that the population-wide dominance coefficient for new mutations is about 0.3.
The wide phenotypic expression associated with PCDH19 mutations is very reminiscent of what is observed for patients with SCN1A mutations.
Classifying low-frequency somatic aberrations as either driver or passenger mutations is a challenge, which is further complicated by the large burden of passenger mutations that can be identified by genome-wide sequencing strategies.
When the E. coli strain carrying a mutator was cultivated under gradually increasing temperature, genome-wide mutations were continuously generated during genome replication and the mutated strains with improved thermotolerance were autonomously selected.
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