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In contrast, the overall spectrum of heavy ion induced mutations revealed a majority of partial or total deletions of the Hprt gene.
Comparison of the metabolome of these ALS patients to the SALS and FALS patients without SOD1 mutations, revealed a significant separation between the groups (Fig. 4 a).
Notably, patients harbouring TP53 mutations revealed a non-significant trend for an inferior RFS and DSS if treated with paclitaxel as compared to epirubicin as first-line treatment.
Also, primary AML cells with oncogenic N-RAS mutations revealed a higher expression of differentiation markers as compared to patients lacking such mutations (Figure 5E).
Large-scale screening of gastric adenocarcinomas for PIK3CA mutations revealed a mutation incidence of 4.3%.
A patient with ACE mutations revealed a high plasma renin activity, high active renin concentration and low ACE concentration [ 7], as shown in the present case.
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Surprisingly, patients harboring non-V600E BRAF mutations revealed an objective clinical response similar to V600E melanoma patients [ 6, 7].
Yet, assessment of these ratios of five different FHC-causing β-myosin missense mutations revealed an allelic imbalance at the mRNA as well as at the protein level.
Where a biopsy was performed, the histology of 148 patients with NPHS2 mutations revealed an FSGS lesion in ∼75% of cases and in 68% of cases in the R229Q plus 1 pathogenic mutation cohort.
A closer inspection of these predicted inactivating mutations reveals a bias toward specific critical residues.
Although neuronal expression is predominant, rbp9 mutations reveal a role in cystocyte proliferation and differentiation, but no neuronal defects have been reported [ 6, 7].
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