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In the HRPT2 gene, one missense mutation was revealed.
No mutation was revealed in RP-associated genes.
All exons and splice acceptor/donor sites were amplified by PCR from genomic ostes/ ostes DNA and screened for mutation by sequencing, but intriguingly, no mutation was revealed.
Understanding the puzzling genetic features in DM1 pedigrees and an extreme clinical variation of the disease became possible when the underlying mutation was revealed [ 7– 9].
Monocytopenia with susceptibility to atypical mycobacterial infection, such as mycobacteriuma avium complex, was described as 'monoMAC' (Vinh et al, 2010) and GATA2 mutation was revealed by a candidate sequencing approach (Hsu et al, 2011).
Once a mutation was revealed, the eight-fold pool (samples: 1 8) was remixed into eight discrete pools consisting of two individuals each (samples: 1&2, 3&4, 5&6, 7&8, 1&3, 2&4, 5&7, and 6&8).
Similar(53)
Yet, although significant effects of the IGF2 mutation were revealed both by ultrasonic and carcass BFT measurements, the presence of a second QTL at a position near 40 cM, as previously described in this population by de Koning [ 10], cannot be excluded [ 5].
The ability of avian influenza A viruses to carry OC-resistant mutations was revealed in this sequence screening.
A substantial overlapping between the KRAS and PIK3CA mutations was revealed.
A clearly enhanced prognostic value of plasma mutations compared with tumour mutations was revealed when analysing the relationships between OR and DFS and the plasma KRAS mutation status (Table 2 and Figure 1).
We also performed whole-exome sequencing, but no other pathogenic mutations were revealed.
More suggestions(15)
deployment was revealed
mutation was described
mutation was detected
mutation was confirmed
mutation was labeled
mutation was repeated
mutation was genotyped
mutation was created
mutation was backcrossed
mutation was introduced
mutation was expected
mutation was termed
mutation was found
mutation was named
mutation was identified
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