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A significant portion of mutations in Scribble associated human pathology are within the SADH motifs.
By sequencing small cell lung cancers, Rudin et al., reported that a considerable portion of mutations occurring in SOX2 and other SOX genes indicated a correlation between lung cancers and cell stemness [ 53].
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Only a small portion of these mutations were nonsense mutations (115, 5.1%), which likely truncate protein sequences.
Nevertheless, it is widely accepted that the major portion of these mutations are "bystander" mutations that do not directly contribute to tumorigenesis.
In Jewish high-risk individuals of Ashkenazi (east European) descent, three predominant mutations, 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2), seem to account for a substantial portion of germline mutations, and two of these mutations (185delAG and 6174delT) are also found at about 1% each in the general Jewish-Ashkenazi population.
This implies that there is a small portion of the mutations coded in the mutation databases are not fully compliant with the HGVS nomenclature.
This implies that there is a small portion of the mutations coded in the mutation databases that are not fully compliant with the HGVS nomenclature.
Currently, the sequenced mutation data can interpret only a portion of the mutations.
Interestingly, a significant portion of the mutations was located in exon 1 (n=11, 32%) but there was no area of recurrent mutations in this exon (Table 2).
However, it is now known that some mutations in the sperm may be repaired in the early cleavage after fertilization (Rathke et al. 2014), so a portion of observed mutations in the early cleavage may be the result of incomplete repairing of pre-existing mutations.
However, it should also be noted that we only focused on exonic regions captured by RNA-Seq, somatic mutations in regulatory regions will not be identified here, therefore out list also presents a portion of somatic mutations in OSCCs.
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