insertion/deletion (ins/del)molecular modelingA small group of hemoglobin (Hb) variants result from 'in-frame' deletion/insertion (del/ins). We describe a new variant of this group (Hb Choisy), found on the α1
This in-frame deletion within the BAR domain could be responsible for the hippocampal alterations that were not detected in patients with a complete loss of OPHN1. PATIENTS AND METHODS The propositus (III.2; Figure 1) was referred to the Human Genetics Service at the State University of Rio...
That the RUNX1 variant was a false positive is well compatible with the whole-exome sequencing data; the RUNX1 variant call was error prone because of low coverage (10×) in the proband and the variant's genomic location within a repeat region adjacent to a deletion. Two variants were ...
mRNA showed the expected M1 mutation and correct splicing on deletion of the transcriptional STOP cassette. In summary, the expression of the cathepsin L mRNA that contains a mutation at the conventional start-AUG codon did not induce any gross pathological phenotype in heterozygous animals or ...
Sanger sequencing was used to identify clones with small insertion or deletion mutations at the exon 51 genomic locus characteristic of NHEJ. Clone 106 had a 5-bp deletion expected to restore the reading frame (boxed). All other clones had deletions that were not expected to result in ...
According to news reporting originating in Anhui, People's Republicof China, by NewsRx journalists, research stated, "Inframe insertion/deletion (indel) variants may alterprotein sequence and function, which are closely related to an extensive variety of diseases. Although recentresearches have paid ...
The authors describe five patients with PENS who had a specific genetic mutation called mosaic EGFR exon 20 in-frame insertion. This mutation was found in skin biopsy samples but not in blood samples, suggesting that it may be a somatic mutation. The authors also note that PENS may be ...
We describe a neonatal form of PPP2R5D‐related disorder with early infantile death, caused by a novel in‐frame deletion causing loss of 8 amino acids and insertion of serine at position 201 (p.Phe194_Pro201delinsSer) of the B56δ subunit. This deletion is predicted to disrupt a ...
mRNA showed the expected M1 mutation and correct splicing on deletion of the transcriptional STOP cassette. In summary, the expression of the cathepsin L mRNA that contains a mutation at the conventional start-AUG codon did not induce any gross pathological phenotype in heterozygous animals or ...
developed for inducing DNA substitution (transitions or transversions) [5,6,7]. The other type of CRISPR-derived gene editing technology is prime editing (PE), which is a precise gene editing technique that can mediate targeted deletion, insertion, and base substitution without introducing DSBs ...