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Overall we identified 1156 mutations, accounting for 10.7% of analyzed signals.
The etiology, including genetic background is heterogeneous, with most disease-causing mutations accounting for a variable amount of DCM cases depending on the family and pedigree.
HDAM currently assembled 1,114 mutations accounting for 669 genes and 125 human diseases.
LCA is associated with mutations in at least 19 genes (RetNet: https://sph.uth.edu/retnet/), with CEP290 mutations accounting for almost 25% of the cases in North America.
Twenty-five clusters (18.1%) had two or more individuals sharing one or more drug resistance mutations, accounting for 78.0% of the clustering individuals with resistance.
The most striking evidence is mutations accounting for Mendelian disorders (6) or common variants associated to complex traits and diseases (7).
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Notably, the S718del, P720R and S718P mutations account for the vast majority of the USP8-mutated cases (77.61%; Figure 1B).
For a discussion of the extent to which the establishment of beneficial mutations accounts for genetic differences between species, see Eyre-Walker, A. 2006.
Dr. Beaudet, who was not involved in the work, said that spontaneous mutations account for about 10 percent of cases of mental retardation and other learning disabilities.
Large deletions and complex mutations account for 23%.
Furthermore, about 50% of the Nav1.5 mutations account for BRGDA1, while 30% for LQT3.
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