Exact(44)
Additionally, 12 of the 13 mosaic type 2 deletions were found in females.
Breakpoint analysis of 13 independent type 2 deletions did not reveal any obvious hotspots of NAHR.
Type 2 deletions span 1.2 Mb and are characterized by breakpoints located within the SUZ12 gene and its pseudogene, which closely flank the NF1-REPs.
Thirty-two novel sequence variations were identified (2 deletions, 2 nonsense, 15 missense, 6 silent, and 7 intronic), some with clear functional consequences.
Here, we present the first comprehensive breakpoint analysis of type 2 deletions, which are a second type of recurring NF1 gene deletion.
The marked female preponderance among mosaic type 2 deletions contrasts with the equal sex distribution noted for type 1 and/or atypical NF1 deletions.
Similar(15)
Fig. 2 INU1 deletion and replacement analyzed by agarose gel electrophoresis.
Fig. 2 Mecp2 deletion produces changes on colon morphology and histology.
Furthermore, we identified 11 deletions, 4 tandem duplications and 5 inversions that mapped to known genes.
The LSP1 gene had the most cases with CNV (46 deletions and 5 amplifications).
The difference in distribution profiles confirms that WT STA cells directly migrate in the direction of protrusions without the necessity of external cues, while PTEN disruption or PI3K1/2 deletions diminished such coordination between cell polarity and cell migration.
Write better and faster with AI suggestions while staying true to your unique style.
Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com