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Further duplications and loss-of-function mutations have later led to the emergence of several CLPs, some of which are found in all mammals, while others are specific to particular species.
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Mutations in FKRP result in a range of phenotypes that are not fully explained by genotype, although those homozygous for the c.C826A mutation have later onset of symptoms.
The frequency of this mutation has later been reported to be 34% among MC cats [ 16].
For example, patients with clearly deleterious splicing mutations on the other chromosome (c.3523 1G>A in patient #11, c.768G>T in patient #14, and c.4540 2A>G in patient #27) had an earlier disease onset and rapid progression, whereas patients with a "milder" second mutation had later onset and slower disease progression.
Conversely, the mean evolutionary rate estimates tend to decrease with the addition of data over time, suggesting that many early deleterious/neutral mutations may have later been purged from the population through purifying selection [ 3, 5, 14].
Compared with PSEN1 mutation carriers, carriers of PSEN2 mutations have a later age of onset.
Two additional dominant missense mutations, H1901L [ 10] and L1793P [ 22], have later been reported to cause myosin storage myopathy.
We have later confirmed an excess of exonic de novo mutations and more particularly of nonsense variants in 15 SCZ trios (probands and parents) using exome sequencing.
This genetic difference ignored the QTL and the markers which were assumed to be mutations having occurred later.
These later mutations have proven difficult to distinguish from neutral or adaptive polymorphisms.
However, the p.F48L, p.G69S, p.S612G, and p.R643C missense mutations have been associated with a later-onset phenotype.
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