Sentence examples for mutations and variants from inspiring English sources

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Diasorin hired him in 1988 to direct a laboratory the company had created to detect new mutations and variants of known microbes.

The panel of mutations and variants was tested against 386 blinded samples supplied by "authority" laboratories highly experienced in cystic fibrosis transmembrane regulator genotyping; >98% concordance was observed.

Two novel articles about germline DDX41 mutations and variants in families with MDS/AML are also published recently (Cardoso et al., 2016; Li et al., 2016).

Summary of the studied mutations and variants.

Recently, mutations and variants of this gene were associated with DNA damage response [ 35].

To evaluate a possible correlation between abnormal semen consistency and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and variant tracts.

The discovery of cationic trypsinogen mutations, CFTR mutations, SPINK, and variants of CTRC have provided gastroenterologists a greater insight into the nature of pancreatitis.

At present, over 878 distinct mutations, polymorphisms and variants throughout the BRCA1 gene have been discovered [ 16].

Interestingly, samples with both PTEN mutations and SDHx variants showed higher ROS compared with samples with SDHx variants alone.

However, when considering the most clinically relevant types of mutation defined as functional mutations (exonic: missense, stop, frameshift, and in-frame indel mutations and splicing variants) >99% of genes were not more mutated in FFPE than FF data sets (Supplementary Figure S20B).