Sentence examples for mutations and variant from inspiring English sources

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

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

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).

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.

Summary of the studied mutations and variants.

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

However, it is ineffective against compound mutations and variants from the activation loop (D835F/Y), suggesting that these variants will become significant clinical challenge.

All mutations and variants found in CEP290 were submitted to the locus-specific mutation database CEP290base (http://medgen.ugent.be/cep290base) (Coppieters et al., 2010).

Abnormal sensory processing in autism is likely to arise in part from genetic mutations and variants that predispose for neural circuit dysfunction.

These mutations and variants were detected in families with both breast and ovarian cancers, except for the RAD51B c.475C > T/p.Arg159Cys variant that occurred in a family with 3 breast cancer cases.

We will continue to review internal cosegregation, phenotype, and frequency data on BARD1 mutations and variants in our cohort to aid in clarifying the contribution of this gene to hereditary cancer susceptibility.