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Differentiating passenger events from disease causing mutations is a challenge, particularly for genes that are infrequently mutated or have silent or noncoding mutations.
The result of these mutations is a decrease in cortisol production.
Some experts say that testing a tumor for genetic mutations is a far more practical way to figure out which drug may work best.
The result of these mutations is a reduced amount of phosphatidylcholine in bile.
Thus, the consequence of FHM2 mutations is a loss-of-function mechanism with non-functional proteins impairing pump function.
Information about the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations is a crucial prerequisite for screening programs.
Robustness to mutations is a particular aspect of robustness in which the phenotype is resistant to genotypic variation.
In sum, natural selection of random mutations is a principle of order, leading to adaptation, not a principle of disorder, leading to chaos.
The identification of gene mutations is a critical goal for the assessment of diagnosis and prognosis in cancer disease, particularly by direct sequencing.
Our results suggest that natural variation in miRNA biogenesis resulting from cis mutations is a common contributor to phenotypic variation in plants.
Analysis of somatic mutations is a useful tool in selecting personalized therapy, and for predicting the outcome of many solid tumors.
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