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The presence of this mutation is highly correlated to advanced stages of disease.
The mutation is highly penetrant in both roots and male meiocytes.
This cluster of RAS mutants (6 of 6 cell lines harboring RAS mutation) is highly unlikely to have occurred by chance (p = 0.001, permutation test, n = 100,000).
The L444P recurrent mutation is highly associated with neuronopathic variants of Gaucher disease, and is the most common Gaucher disease allele world-wide [2].
The correlation of FSIQ results with the location of the DMD mutation is highly suggestive that the risk of cognitive deficit is a result of the cumulative loss of CNS expressed dystrophin isoforms.
Published data on RAS mutation is highly variable with respect to frequency, the distribution of codon 12 and 13 vs. codon 61 mutations in HRAS, and the proportion between HRAS, KRAS, and NRAS mutations [5], [34], [35], [36].
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Introduction of the mutation was highly efficient, with almost 100% of genomic DNA isolated from tomato cells of the regenerated generation (T0) having the desired mutation, with no off-target mutations.
The DLK1 c.639C>T mutation was highly polymorphic in all breeds analyzed and C allele was predominant in Landrace and Duroc while T allele was more frequent in Pietrain and Puławska breed.
The mutation was highly effective in attenuating the motor-stimulating effect of acute NMDAR blockade by phencyclidine, although no appreciable elevation in NMDAR-mediated excitatory postsynaptic currents (EPSC) was observed in the hippocampus.
Furthermore, the functional consequences of a given mutation are highly variable, depending on its nature and localization in the genome.
Moreover, in the breast cancer brain metastasis sequenced by Ding et al. (2010), the RBM47 mutation was highly enriched when compared to the primary tumor.
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