Sentence examples for mutation or variant from inspiring English sources

Key search terms included ("Fuchs' endothelial dystrophy," or "Fuchs' endothelial corneal dystrophy,") and (" transcription factor 4," or " TCF4, or " immunoglobulin transcription factor 2," or "E2-2," or "SL3-3 enhancer factor 2," or "SEF2," or "rs613872," "rs17595731" or "rs2286812" OR "rs9954153") and ("polymorphism," or "variation," or "mutation," or "variant," or "genotype," or "allele").

The new study shows that all the affected members have inherited a mutation, or variant piece of DNA, in a specific gene.

No mutation or variant was identified in these 48 breast cancer cases, and so we did not proceed to a validation series or further studies in breast cancer.

Therefore, in the sequencing report the alternative use of the term "mutation" or "variant" will also clarify which kind of reference was adopted.

The electronic databases Pubmed, EMBASE, and China National Knowledge Infrastructure (CNKI) were searched using the following terms: (asthma or asthmatic) and (interleukin-13 or interleukin 13 or IL-13 or IL13) and (polymorphism or mutation or variant).

Usually, these men have two CFTR mutations: one CF-causing (hence serious) mutation, which in homozygosity or a compound heterozygous status would lead to the classical form of CF, and one 'mild' mutation or variant in trans.

As a genetic counselor, it is always challenging to tell the patient sitting in front of you that she carries a genetic mutation (or, a pathogenic variant, as it is now called) that could negatively impact her health.

However, we suggest that mutation or variants of VANGL and other PCP genes should be considered as possible causes of the variable glomerular numbers observed in human kidneys.

Researchers are hard at work identifying specific genes and mutations (or variants) that play a role in the diagnosis, prognosis, and treatment of cardiovascular disease.

They were tackling a persistent problem in genome science: how to maintain patient privacy while also accumulating and analyzing the multitudes of DNA sequences necessary to determine which genetic mutations, or variants, are associated with the development of particular diseases.

Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A.