Sentence examples for mutation reports for from inspiring English sources

Additional expert consultation and functional confirmation were performed when the subject's phenotype differed from previous mutation reports for that disease gene.

In contrast to the SMC1 mutations, for the only SMC3 coil mutation reported for CdLS patients (E488Del), COILS predicts it will not impact the coil negatively.

To our knowledge this is the first germline mutation reported for brain tumours of multiple lineages.

Other than replacing long chain residues with alanine in helices and the Gly to d-Ala mutations in the C-terminal cap of the Trp-cage's N-terminal helix, a [P12W] mutation is the most fold stabilizing mutation reported for the Trp-cage.

The array includes all mutations reported for each included gene at the time of development of the assay.

Our structural model clearly emerges from the NMR data and is consistent with pro-apoptotic mutations reported for both cytochrome c and Bcl-xL.

We must also recognize that the number of mutations reported for MSX1 is still relatively small.

These "orphan" non-p.V600E/K/R mutations account for approximately 6% of all mutations reported for melanoma in the COSMIC database [ 12].

81 A high level of allelic heterogeneity is found for both genes, with a total of 270 different mutations reported for PKD1 and 73 for PKD2.

Even after accounting for all the mutations reported for the disease up to 2014, the number of mutations is still under 2,000 [ 4].

There have not been any mutations reported for DCN in human malignancies, whereas such mutations cause human disease called congenital stromal corneal dystrophy (CSCD), the disease characterized by corneal opacities and vision impairment [ 20].