Sentence examples for mutations identified only from inspiring English sources

Of the 2000+ CFTR mutations identified, only 33 have an approved and available corrective therapy.

Within this family, there are 16 genes with mutations identified only by our group.

There were 4 mutations identified only in one family, but more than 2 patients in the pedigree were identified to carry this mutation and other healthy family members were not.

Of the four pathogenic mutations identified, only one patient had a family history of PrCa (father, age unavailable), one patient had a family history of bladder cancer (brother, age unavailable) and two patients were from families with first-degree relatives with breast or ovarian cancer (details in Table 2).

Sequencing analysis of microdissected BCACs from 10 cACF+ve and 10 cACF−ve for Ctnnb1 mutation identified only one activating mutation from A to G substituting Asp at codon 32 with Asn in a lesion from cACF+ve, but not in any lesion from cACF−ve, implying non-genetic mechanisms for AOM-induced β-catenin accumulation, at least in early stages.

However, when mutations are identified only as variants seen in two or more isolates, then no mutations are detected in the critical 3CL protease and polymerase genes, whereas mutations are noted in the S, M, and N genes regardless of the filter stringency.

Frameshift mutations were identified only in 6 PTP genes, of which PTPN21 show the highest mutation frequency at all in MSI-H tumors (17%).

Three of the non-synonymous or nonsense mutations were identified only in the wrinkled variant, and four of the non-synonymous or nonsense mutations were found only in the translucent variant.

Nevertheless, in wt:1, lig4:1, lig4:2, and mre11 6 apt clones, mutations were identified only in the noncoding region and their contribution to mutated APT phenotype has to be established.

Of the six mutations we identified, only one, BRCA2 E1308X, has been reported in multiple studies.

A total of five mutations were identified only in the 15 breast cancer cell lines (33.3%).