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All 22 mutations are single base pair substitutions, and nine of them (41%) result in nonconservative amino acid substitutions.
Both original mutations are single nucleotide deletions that lead to frame shift and premature translational stop [2].
The majority of synthetic gene mutations are single nucleotide deletions, and to a much lesser extent, base changes.
In our study, the vast majority of these mutations are single nucleotide polymorphisms (SNPs) although three small (3, 9, or 13 nucleotides, respectively) deletions were also included.
While nonsense and frameshifts are null mutations that lead to the complete loss of the gene product, the most common type of AGXT mutations are single amino-acid substitutions that lead to the synthesis of an aberrant gene product [ 6].
Major mutations are single residue replacements that alone are capable of significantly decreasing the susceptibility to one or more drugs in a particular class, they generally occur either at positions forming the inhibitor binding site or at nearby positions affecting its geometry, and they frequently appear in clinical samples sequenced from patients experiencing virologic failure.
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Additionally, the number of mutated genes and mutations per gene or per cancer in the coding region varies greatly [30]: Some 95 97 % of mutations are single-base substitutions and 3 5 % constitutes insertions and deletions.
DJ-1 mutations are single-nucleotide substitutions or deletions leading to a non-functional protein [21], [22].
Specifically, all but five mutations are single-step insertions or deletions.
The majority of PSEN1 mutations are single-nucleotide substitutions, but small deletions and insertions have been described as well.
The majority of PSEN mutations are single-nucleotide substitutions, but small deletions and insertions have been described as well (AD Mutation Database).
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