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In fact, the incommensurate modulation is related to an orthorhombic basic structure, while the commensurate variant presents a monoclinic symmetry.
The S168W variant presents a tryptophan environment inherited from the parent C. subvermispora MnP6 with only one exposed acidic residue (Glu equivalent to Glu and Glu in VP and LiP, respectively) and none of the basic residues present in the VP.
The mucin profile has other potential therapeutic ramifications; in many breast cancers, the glycosylation of the MUC-1 mucin side chains is altered and the mucin variant presents a potential target for immunotherapy (Taylor-papadimitrou et al, 2002); however, this is not an option for mucinous carcinomas which do not produce MUC-1.
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The differences are mainly related to the number of exons as follows: neuronal variant presents an extended exon 6, the spleen variant is characterized by the absence of proline-rich region, and the breast variant has a supplementary exon 11a [ 1, 2, 4, 10].
However, the putative 3D structure of the variant presented a number of problematic issues.
In an in vivo study by Crettol et al. [14] the carriers of the CYP3A4*1B variant presented a 1.4-fold increase for (S -methadone and 1.1-fold increaS -methadoneethandne; also, the CYP3A4*1B variant carriers have more probability to be in the low-dose group, suggesting that they have higher methadone plasma concentrations and require lower methadone doses.
In five additional cases, a novel variant, presenting a G351 to A mutation, in the reactive centre loop of the protein, was identified and termed SCCA-PD (GenBank accession number: AY190327).
The effect of at least one NQO1 rs1800566 (C609T) variant presented an increased risk association with ALL with MLL-r, although not statistically significant (p = 0.09).
Similarly, variants presenting a DS <14 in the control file were discarded (see above for explanation).
While knowledge regarding rare variants is becoming increasingly detailed, statistical analyses of rare variants present a number of challenges.
A family-based association analysis has been performed between the three studied phenotypes and variants presenting a MAF over 0.05 that were not included in the first genotyping panel, which was the case for four of the nine identified variants (rs7911506, c.86172A>G, rs7895103 and c.140901G>A).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com