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Arguments from biochemistry and bioenergetics suggest the existence of a physicochemical lower bound on how far mutation rates can be decreased [2].
Thus far, mutation analysis has provided no evidence for involvement of p73 in oligodendrogliomas, lung carcinoma, oesophageal carcinoma, prostatic carcinoma and hepatocellular carcinoma.
Our contribution is to highlight that the CFTR peptide sequence straddling the site of the commonest (by far) mutation around F508 bears striking similarities with a range of pathogen proteins.
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Thus far, mutations in the α-actinin-4 gene are the only known genetic alterations related to the actin cytoskeleton that lead to a podocyte phenotype similar to progressive glomerulosclerosis in humans.
So far, mutations in NHE3 or NHE8 have not been found in human pRTA patients.
So far, mutations in more than 50 genes have been identified to be associated with RP [ 11, 12].
So far, mutations in FA genes have been rarely described in hematological malignancies outside the syndromic picture of FA.
So far, mutations in p53 have been considered to be inactivating and rendering p53 incapable to perform any of its regular functions (Muller & Vousden, 2013).
So far, mutations in the canine orthologs of 7 of these genes have been identified in DNA from dogs with neuronal ceroid lipofuscinosis.
So far, mutations in 14 different genes have been identified as underlying the EB subtypes (Fine, et al., 2008; Groves, et al., 2010).
So far, mutations in eight different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) that lead to dysregulated secretion of insulin have been described (7, 8).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com