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Therefore, cumulative mutational burden for 11 investigated mitochondrial genome mutations is associated with 88.2% of cases of atherosclerotic lesions in morphologically mapped aortas.
Baradaran-Heravi, A. et al. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Heterozygosity for leptin mutations is associated with an increase in body weight [11].
Reduced expression of PfEMP-1 on the surface of parasitized RBCs containing the malaria-protective HbC or HbS mutations is associated with impaired cytoadherence [10], [11].
Type I lissencephaly, due to DCX [3], [4] or LIS1 [5] mutations, is associated with severe mental retardation and refractory epilepsy [6].
Deregulated expression of BCL6, due to chromosomal translocations or point mutations, is associated with the formation of approximately one sixth of non-Hodgkin's lymphomas [13], [14].
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Among them, MYH2 mutations are associated with ophthalmoplegia (paralysis or weakness of eye muscles)109.
Orhan, G. et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Seven mutations were associated with impaired peptide loading in vivo, as detected by SDS stability assays.
Heterozygous SHANK3 mutations are associated with idiopathic autism and Phelan-McDermid syndrome.
Kim, J. et al. Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.
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