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These mutations involve the replacement of specific phenylalanine residues, which circumscribe the cavity, with tyrosine, tryptophan, leucine and isoleucine.
Mutations involve the SLC34A3 gene, which encodes for NaPi-IIc (Na-dependent Pi cotransporter found in the proximal renal tubule).
Other mutations involve the P-loop (e.g. E255 K) and presumed regulatory regions of the enzyme (e.g. M351T) remote from the imatinib-binding site.
The BRAF locus is localized on chromosome 7q, and most BRAF mutations involve the kinase activation loop at the p.V600 position.
For top strand lesions, mutations involve the G of GpA, the complement of the C of TpC (see Figure 4 main text).
For example, D178N causes FFI, D202N causes GSS and E211Q causes CJD, yet all of these mutations involve the substitution of a negatively charged amino acid with a polar uncharged amino acid (Capellari et al., 2011; Kovács et al., 2002).
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In terms of the APC gene, SBN have a lower rate of mutations involving the APC gene compared to its involvement in CRC [ 63].
There are no known missense mutations involving the free C residue, according to the NCL mutational database (http://www.ucl.ac.uk/ncl/), indicating that this residue is not critical for TPPI catalysis.
Clear cell renal carcinoma, the most common histologic subtype, is predominantly associated with mutations involving the von Hippel-Lindau gene and elaboration of vascular and somatic growth factors.
After several studies on relations between the mutations involving the core-binding factor A1 (CBFA1) on chromosome 6p21 and CCD were published, many studies have been conducted to determine the correlation between CBFA1 mutations and phenotypic variabilities [2].
This can happen via two pathways: (1) somatic gain-of-function mutations involving the IL6ST gene, which encodes the oncogene gp130 in 60%% of cases, and (2) STactivationtion without mutations in gp130 in 40%% of cases [38].
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