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Given the clinical features and the absence of mtDNA deletions in the above studied patients, the novel as well as known disease associated mtDNA variants which we have identified may well play a direct or indirect role in causing the disease.
BMP2, BMP4, and GDF5 all have nuclear variants, which we named nBMP2, nBMP4, and nGDF5, respectively.
We identified a total of 1022 miRNA variants, which we named tsa-miRv1 to tsa-miRv1022.
The vast majority of variable positions were covered by infrequent variants, which we interpreted to represent sequencing errors and not variation of biological origin (Table 3).
A union and unique set of variants, which we referred to as LD80, was compiled from these queries for each GWAS SNP set.
The intersection of these two selection criteria generates a list of 1623 variants, which we would expect to retain and be enriched for the causal functional variants.
Similar(49)
Two samples which were genotypes E and J, had a new CT1299 variant (which we have designated as variant 9; Table 3).
The 558 SNP is however synonymous and may not itself be the disease causing allele, but may be in linkage disequilibrium with some other, unknown variant which we were unable to identify in our study.
Cloning and sequence analysis of all obtained amplification products confirmed the absence of full-length asp f16, but identified a novel variant, which we named crf2 due to its partial similarity to the published crf1 [31].
CYP2D6*6b and CYP2D6*6c carry the 1976 g> a variant, which we successfully genotyped.
The second variant, which we call 'softmax', uses the sigmoid function, sigm(x), to cap the rate function at R0.
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