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Mapping possible direct mechanistic links between sodium channel mutations and increased seizure susceptibility may help improve our understanding of genotype-phenotype correlations.
An overall test of association for men and women together showed a statistically significant association between BRCA1/2 mutations and increased non-cancer mortality (p = 0.024).
A correlation between mtDNA mutations and increased ROS contents in primary leukemia cells isolated from patients has been shown [ 40].
High PKB activity in pancreatic cancer tumors is associated with resistance to apoptosis, higher rates of metastasis and mutations, and increased proliferation and uninhibited growth.
In addition, a study of 833 patients with primary breast carcinoma revealed a strong association between p53 mutations and increased vascular endothelial growth factor (VEGF) expression.
Interestingly, reciprocal associations between hypolipobetaproteinemia, a condition caused by APOB mutations, and increased longevity have been described (Glueck et al., 1976; Arai et al., 1997).
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However, we recognize that our summary may not contain all Nav channel disease-related mutations owing to abundant literatures reporting Nav channel disease-related mutations and increasing volume of work describing new findings.
Positive selection acts towards introducing nonsynonymous mutations and increasing the diversity of the population.
The mutations and increasing virulence of MDV are thought to be responsible for the occurrence of MD on vaccinated farms.
Furthermore, a relationship between progressive increases in mutations and increasing histologic aggressiveness has not been identified for other common cancers such as breast, lung, or prostate.
On the other hand, we find a significant relationship between the strength of selection acting on preferred mutations and increasing levels of codon bias.
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