Exact(1)
The HBG2 g.-109G>T HBG2 g.-109G>Tion was neither identified in 31 β-thalassemic chromosomes, baseing the substitution.-101C>T mutation nor in 209 normal (nonthalassemic) chromosomes, suggesting that the novel HBG2:g.-109G>T variation is not a frequent polymorphism.
Similar(59)
We did not find LOH in any of the four Hürthle cell tumours presenting GRIM-19 mutations, nor in any of the other 22 sporadic Hürthle cell tumours.
Limb malformation was a prominent feature of MSC SHP-2 KO mice, although is not observed in humans with PTPN11 mutations nor in Ptpn11 D61G NS or Ptpn11 Y279C LS mice.
For comparative analysis of SNP detection performances we considered neither the intronic VNTR containing the PRPF31 pathogenic mutation, nor another VNTR in the TFTP gene, also present in this region.
However, a restriction of genome length does not result in a more efficient covering of genotype-space under higher mutation rates nor in an increase in efficacy.
Similarly, adrenal glands with CACNA1H M1549V show little or no hyperplasia by CT scan and neither this mutation nor other activating mutations in CACNA1H have been seen in APAs.
Neither mutation nor polymorphism was found in the sequence.
Stimulation with ATRA increased CysLT2R promoter activity in a reporter gene assay, but neither mutations nor truncations in the RARE elements decreased the activity.
Although neither mutations nor alterations in abundance of FixLJ homologues (BCAL2210/BCAL2211) have been identified in these B. cenocepacia clinical isolates, BCAM0049/fixK may play a central regulatory role to the oxygen response in both species.
The lack of transgenic approaches in choanoflagellates meant that we could not complement the rtls l1 mutation nor delete the rtls gene in wild-type cells.
Neither mutations nor polymorphisms in the coding region of p14 ARF) were observed among the 107 patients analyzed.
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