Sentence examples for mutations with an from inspiring English sources

(ii) Mutations with an obvious functional effect on a cancer gene but in a tumor type with no known association to that gene.

Half of all human cancers lose p53 function by missense mutations, with an unknown fraction of these containing p53 in a self-aggregated amyloid-like state.

We identified 256, 265 and 378 somatic mutations per patient, encompassing mutations with an estimated functional impact in 6 12 known disease driver genes per patient.

Fifteen recombinant pGEM-Ts were obtained and the sequencing results showed that the ORFs contained one to ten mutations with an error rate of 8.3 per kilo base.

The most common mutations with an estimated frequency of 83 % in European descendants with CSID are Gly1073Asp, Val577Gly, Phe1745Cys and Arg1124Stop [10].

Polymorphisms between sequences were confined to point mutations, with an absence of nucleotide insertions or deletions.

Mutation testing of 28 unrelated TAAD patients revealed 4 known and 6 possibly pathogenic mutations with a mutation yield of 32%.

Two recurrent tumors treated with temozolomide (TMZ) had an enormous number of somatic mutations with a characteristic signature and were considered to be TMZ-induced hypermutators (Fig. 5a 13.

Testing was performed for specific mutations with a clear establishment to disease.

The analysis of the sequences did not evidence new mutations with a functional effect on the development of disease.

Nevertheless, the association of oncogenic mutations with a favorable prognosis is not without a precedent.