Sentence examples for mutations in currently from inspiring English sources

However, mutations in currently known breast cancer predisposition genes are very rare, and the majority of women who undergo genetic testing for these genes are not found to be carriers of mutations (identifiable by current molecular methods).

COD and CORD are genetically heterogeneous disorders with phenotype caused by mutations in currently ten genes, including AIPL1, CRX, GUCA1A, GUCY2D, PITPNM3, PROM1, PRPH2/RDS, RIMS1, SEMA4A, and UNC119 (https://sph.uth.edu/retnet/).edu/retnet/

For example, they may have mutations in currently uncharacterized genes for which loss of function data are not available, or they may have small deletions that would have been missed with our filtering strategy.

Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM.

This means that some people with the clinical diagnosis have mutations that are not detectable by current technology, or that mutations in another currently unknown gene could be responsible for a minority of cases.

In summary, our study provides a systematic approach to monitor the evolution of HA mutations in the currently circulating 2009 H1N1 viruses that would potentially result in strains with higher human receptor-binding affinity and human-to-human transmissibility.

The cohort will be selected based upon family history and phenotype strongly suggesting a genetic aetiology and in whom routine genetic testing is not available, not feasible or has not identified a mutation/s in currently known genes.

For instance, WES aimed at the identification of mutations in genes not currently linked to IRDs; aCGH arrays for the analysis of CNVa in other genes or regions not covered by our MLPA analysis; or whole genome sequencing to extend the analysis to the 99% of non-coding DNA.

Retinitis pigmentosa, caused predominantly by mutations in photoreceptor genes, currently lacks comprehensive treatment.

The exact cell types which are affected by HPSE2 and LRIG2 mutations in UFS are currently undefined, although a neurogenic basis for the syndrome has long been postulated (2).

A number of sequencing and PCR-based methods for detecting KRAS mutations are currently in clinical use.