Sentence examples for mutations documented from inspiring English sources

In particular, nonsense mutations occurring in codon 1443 are among the most common mutations documented in the BIC.

Strains with the following promoter mutations were analysed: A7G in MO036 and A72G in MO034 were mutations documented only in laboratory strains, but not in clinical isolates.

It is well recognized that EGFR dysregulation is a powerful oncogenic driver with overexpression and activating mutations documented in numerous tumors of epithelial origin [ 44].

The distribution of types of mutations documented in non-laboratory animals is fairly similar to that in humans, with almost half being missense or non-sense mutations.

The nuclear gene mutations documented in mouse brain tumors and melanomas were also detected in the normal embryonic tissues of the mice derived from the tumor nuclei (47, 48).

For the purposes of analysis, we selected 13 disease states with at least two related genes in OMIM and at least nine promoter mutations documented in HGMD for model evaluation.

Pathogenic mutations were defined as mutations previously documented in patients with PCD; or nonsense, frameshift and splice-site mutations resulting in loss-of-function.

Also in this study, co-occurrence of EZH2 and TET2 mutations was documented with mutant EZH2 being the first to appear.

IL7R mutations were documented in four patients and CD3D mutations in two others.

In NG14 and Rut-C30 we detected 126 mutations of which 17 were new mutations not documented previously.

We screened a cohort of 800 individuals with nephronophthisis with retinopathy, and found four carrying the M1 mutation, close to the predicted 0.0036 expected carrier frequency and no convincing second mutations were documented in this cohort.