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The percentages of datasets that included the mutation, the percentage of mutated haplotypes as the top hit and mean length of haplotypes were calculated from the 100 simulated datasets.
The signs and symptoms of mitochondrial disorders are dependent on the severity of the mutation, the percentage of dysfunctional mitochondria, and the energy requirements of the affected tissues.
For PDB-affected patient carriers of a SQSTM1/P392L post-zygotic mutation, the percentage of the mutant T allele versus the wild-type C allele was ≤10%% for each DNA sample tested.
For both ES cell cybrids carrying the mild Mtco1 mutation, the percentage of neurons generated (CY2-I, 69.1%; CY2-VI, 70.4%) was again comparable to the parental efficiency (ES-I, 53%, P = 0.095; ES-VI, 63.9%, P = 0.393, respectively).
For females who carry the full mutation, the percentage of active X chromosomes with the normal repeat allele compared to the full mutation allele can modify the severity of the symptoms, as expected for any X-linked condition.
In 38 Hb Winnipeg carriers bearing the HBA1 gene mutation, Hb Winnipeg percentage varied from 10.3 to 14.2 (13.0 ± 0.7), while in 12 Hb Winnipeg carriers bearing the HBA2 gene mutation, the percentage of the variant hemoglobin was between 15.6 and 18.4 (16.9 ± 0.9, Fig. 1).
Similar(53)
FIB-1 localization in the nucleoli is largely abolished in elo-5 animals and restored by the nprl-3 mutation (the percentages of condensed nucleoli localization for the three genotypes from top to bottom are 95% [n=42], 24% [n=112] and 93%[n=68]]).
In one meta-analysis of 338 transmitted point mutations, for some mutations the percentage level of mutant mtDNA tended to increase with transmission, and for others the level seemed to decrease [37].
Despite the fourfold 'increase' in mutation load, the percentage of mutations that are <8.5 kb from their neighbour (proximal mutations) actually 'falls' from accounting for 48% of the AID* mutations in wild type cells to 18% in ung1Δ transformants.
The percentages of datasets that included the mutation and the percentage of mutated haplotypes being the top hit were calculated from the 100 simulated datasets.
We know now that mutation penetrance (the percentage of subjects bearing a mutation who express the phenotype) is highly variable and may be substantially delayed or incomplete.
More suggestions(15)
shift the percentage
abnormality the percentage
transfers the percentage
mutation the plasmid
mutation the deletion
mutation the solution
mutation the efficiency
mutation the spore
mutation the structure
mutation the power
mutation the crossover
mutation the story
mutation the message
mutation the feasibility
mutation the rest
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com