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The mutations were primarily deletions, missing bits of code, that rendered proteins kaput.
The mutations were primarily located (16/20) at codon 12, and 85% of them were G→A transitions (17/20).
In contrast, repeat motifs containing di-, tetra- and pentanucleotides, resulting in frame shifts when undergoing slip-strand mutations, were primarily found in untranslated regions, and rare in ORFs.
Similar(57)
In vitro and in vivo studies reveal that resistance mutations are primarily found within the region spanning amino acid 36 45 of gp41.
The hMre11 structure in conjunction with biochemical analyses reveals that many tumorigenic mutations are primarily associated with Nbs1 binding and partly with nuclease activities, providing a framework for understanding how mutations inactivate Mre11.
Pathogenic mutations are primarily found in the enzymatic domains of LRRK2, the GTPase and the kinase domain.
The contribution of the non-hydrophobic residues needs further analysis as it is unclear whether the effect observed from the double/triple non-hydrophobic-residue to alanine mutations is primarily due to an increase in overall hydrophobicity or to the loss of the specific polar side-chains.
Many of these mutations are primarily responsible for adult-onset mitochondrial disorders [ 1].
Overall, the number of mutations is significantly lower in LCINS, and the point mutations are primarily G → A transitions.
We speculate that the differing average severity associated with these two mutations is primarily due to their contrasting abundance.
These mutations are primarily within the DNA binding domain (DBD) of GATA3 and may modulate its activity [ 21- 24].
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