… as malignant cells for neutrophil production and treatment with … and truncation mutation in
CSF3R, a missense mutation in … RJL and PV performed bioinformatics analysis for sequencing; …

… cancer-related missense mutations positioned inside or … evaluated by bioinformatics tools
based on analyses of primary … We searched for cancer-related missense mutations, leading …

… mutations of the ELANE gene (previously termed ELA2) encoding neutrophil elastase are
responsible for most cases … (Fig 1): a de novo missense mutation (2192G > A) within exon 3, …

… missense mutation studied in this work. By taking a look at the table, it can be inferred that
mutations have different effects on protein … For example, when the effect of mutation is studied …

… The structural effects of AASs were studied by bioinformatics methods in the structure of
CD40LG tissue necrosis factor (TNF) homology domain (PDB ID 1ALY). 13 variations were …

… Approximately 2% of SCN cases are caused by biallelic, missense mutations in … Bioinformatic
analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) …

… for 55.6% cases 9. The ELANE (or ELA2) gene encodes the 72 neutrophil elastase protein.
A … Among the 56 255 cases studied, 40 cases received G-CSF treatment. Partly due to the …

… missense mutation studied in this work. By taking a look at the table, it can be inferred
that mutations have different effects on protein … purpose in our bioinformatics study, protein–protein …

… Bioinformatics analysis was performed in the bcbio-nextgen … We detected two missense
variants of HARS2 in an early … Our study used multiplex PCR plus NGS to detect mutations …