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All cell lines carry a homozygous WT1 mutation owing to loss of heterozygosity of 11p markers.
We note that two patients were missing either KRAS or BRAF data; however, they were classified as having a pathway mutation owing to harbouring a PIK3CA mutation.
p.Arg94 is a residue already known to be susceptible to mutation owing to several reported cases resulting in amino acid substitutions p.Arg94Cys, p.Arg94His and p.Arg94Pro (www.interfil.org).org
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However, we recognize that our summary may not contain all Nav channel disease-related mutations owing to abundant literatures reporting Nav channel disease-related mutations and increasing volume of work describing new findings.
Though, we could confirm the causal gene, the causal mutation could not be ascertained as we could not identify any recombinants in the material tested among the five potential causal mutations, owing to small population size.
However, human and mouse may be more tolerant for such mutations owing to the prominent presence of the enzyme chitobiase.
We first screened the proband for SCN5A mutations owing to their known association with familial SSS (Lei et al. 2007).
The mismatch repair (MMR) system was originally identified in bacteria, and its inactivation results in an increase in the rate of spontaneous mutations owing to the inability to repair the replication errors.
In 15% of patients single monomorphic ventricular premature beats were detected and identified to be linked to RyR2 mutations owing to the presence of sudden deaths of their family members and subsequent family screening.
Overall, AluYb8 had higher DNA methylation levels than did LINE-1, which may be due to the lower degree of C-to-T transition mutations owing to the younger age of AluYb8 elements (Choi et al. 2009).
In this respect, a timely theory of adaptive evolution must recognize the importance of phenotypic accommodation, that is, the refinement of the adaptive phenotype through subsequent mutational changes (Suzuki and Nijhout, 2006), in addition to selection operating on novel features arising from random variation owing to mutation (West-Eberhard, 2005b).
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