These new mutation sites are quite conserved across several different species (Figure 2C). Table 1. Bi-allelic DNAH3 variants identified in OAT men. 3.2 DNAH3 is testicle-specific and closely related ...

Here we describe 5 patients from 2 unrelated kindreds with bi-allelic mutations in IRAK4, where one of which was a missense mutation, resulting in a severe autoinflammatory phenotype without overt ...

However, we still lack understanding of their evolutionary history: the extent of parallelism in the origins of target-site resistance (TSR), how long these mutations persist, how quickly they spread, ...

This strategy centers on the measurement and modeling of ‘allelic manifolds’, a multidimensional generalization of the classical genetics concept of allelic series. Allelic manifolds are measured ...