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This can be explored by calculating allele frequencies expected when selection and mutation are in balance.
Collectively, our results suggest that the mitotic abnormalities caused by Mia1p NES mutation are, in part, due to defective nucleocytoplasmic shuttling of its partner protein, Alp14p.
P53 alteration and KRAS mutation are in the same range as in CRC.
All but one known GHR mutation are in the coding sequence or the exon/intron boundaries.
5 33 Therefore, our results regarding the frequency of KRAS mutation are in keeping with the published reports.
Combining the data in this report and previous publications, one can conclude that the highest chances of finding a SPRED1 mutation are in familial cases of CALM with or without freckling.
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Suitability of this mutation for the TFT, however, is contingent on the male-harming effects being additive across a range of nuclear backgrounds, such that the males harbouring this mutation are in- or subfertile regardless of their associated nuclear genotype (Gemmell et al. 2013).
−28 (A>G) mutation was in red and indicated with red line (G−28).
This showed that the deaf14 mutation was in this interval.
The MAF of the R121W PAX4 mutation was 1% in Asians, and the mutation is in low LD with rs10229583.
Almost all known harmful mutations are in exons and cause disease by directing a misformed protein.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com