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It is known from previous experimental work that both standing genetic variation and novel mutations can contribute to adaption, but little is known about the relative contribution of these two sources of genetic variation.
While confirmation is required, this study suggests that microRNA mutations can contribute to schizophrenia.
These studies have determined that only a fraction of genetic alterations contributing to tumorigenesis may be inherited, while somatically acquired mutations can contribute decisively during the progression of a normal cell to a cancer cell.
Even in the same family, the same large-effect mutations can contribute to different neuropsychiatric disorders.
Selection experiments from inbred founders are useful for showing that novel mutations can contribute to selection responses.
In this situation, unmasking deleterious mutations can contribute a large fraction of the fitness cost of hemizygosity.
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There is also evidence that more than one rare, large-effect mutation can contribute to ASD in a single individual.
Experiments with a very tight binding mutation of tRNATyr indicate that interface amino acids distant from the tRNA mutation can contribute to the specificity.
Ultimately, this suggests the importance of a functional UBE3A for optimal proteasome function, and therefore implies one way in which lack of either the protein (ablated expression) or its function (catalytically inactive mutation) can contribute not only to AS pathogenesis, but possibly also to the pathogenesis of other neurological diseases which occur due to protein aggregation.
Inheritable epigenetic mutations (epimutations) can contribute to transmittable phenotypic variation.
Here, we show six properties of mutations which can contribute to the identification of a LoF or a GoF outcome.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com