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Mutants dmr1- 1, dmr1- 2, dmr5 and dmr6 (all of which also carry the eds1- 2 mutation) were initially investigated; dmr3 and dmr4 have pleiotropic dwarf phenotypes which affect floral morphology and were therefore unsuitable for inclusion in this study.
Mice carrying the classic Crouzon syndrome associated Fgfr2C342Y mutation were initially reported to have characteristics similar to those of Crouzon syndrome patients including a dome-shaped skull, wide set and proptotic eyes, premature fusion of cranial sutures, and a shortened maxilla [ 32].
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A probability of mutation is initially defined for each component.
This strategy does not exploit the repulsion between the mutation and FTL, but might be more suitable if the mutation is initially homozygous, and if it is easy to identify mut heterozygotes.
NOD2 IVS8+158 gene mutation was initially reported to confer higher risk for Crohn's disease in Ashkenazi Jews [ 16].
This mutation was initially reported in one-third of hyperplastic benign breast lesions, although several recent studies failed to detect it in benign or malignant breast tissues.
This mutation was initially reported to promote the formation of toxic oligomers, and APP E693Δ transgenic mice lack extensive amyloid deposition [ 27, 30].
The p.G1186fsX1190 mutation was initially detected in apparent homozygosity in the CRC patient and in the control using primers described by Wu et al (1999).
The AKT1-E17K mutation was initially identified as a SNP, rs34409589, but in a recent publication it was found to be a somatic mutation and was found in 3 of 51 colon cancers [ 27].
Assessment of clinical criteria for deciding whether the HNF1A and HNF4A gene mutations or the GCK gene mutation is initially tested is based on the judgement of experts in monogenic diabetes.
The ROSA41 mutation was initially produced on a mixed 129S5, C57BL/6J strain background (Friedrich and Soriano 1991; Ross et al. 1998), but has since (as mentioned in the section Crosses) been backcrossed to a congenic C57BL/6J background.
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