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Fifteen genes that, when mutated, cause FA (FANC genes) and several genes that may harbor mutations of high, moderate or low penetrance for BrCa risk encode for proteins that converge on a homology-directed DNA damage repair process [ 2].
This would include both rare mutations and uncommon mutations of high penetrance.
For the null mutations of high frequency at site 1066, Hardy-Weinberg equilibrium was examined.
Mutations of high penetrance for ASD have been identified in synaptic genes, including NLGN3, NLGN4X and SHANK3 (10, 11).
Along the same line, we expect a diminishing return of mutation effect in the Early populations and conversely mutations of high effect in the Late populations [ 63, 64].
Direct mapping methods that do not use recombination mapping are often labor-intensive and/or expensive, making these approaches suitable only for mapping a small number of mutations of high interest.
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Esperion's drug, currently known as ETC-216, is an infusion of a mutation of high-density lipoprotein (HDL), the "good" cholesterol.
The number of identifiable mutations of relatively high lethality depends on the extensiveness of lines used in the allelism test.
It is clear that all lines, except for line 5, are suspects of new mutations of relatively high lethality.
Selection in a constant environment will result in an adaptive walk, the substitution of a series of beneficial mutations of successively higher fitness.
TP53 mutations were of higher prognostic significance in right-sided tumors, 1051±26 days vs. 883± 65 days for wild type and mutated TP53, respectively (P = 0.005).
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