Exact(7)
The pathogenicity weights incorporated here are not directly used to train for, or recognize, pathogenic sequences, and/or mutations.
The pathogenic sequences of human patients with dysgenesis of the bladder and external genitalia have been reported.
The pathogenicity weights incorporated in FATHMM were not directly used to train for, or recognize, pathogenic sequences and/or mutations.
In such cases, successful detection of pathogenic sequences is highly reliant on infection stage and cellular composition of the sample.
The absence of pathogenic sequences in patients 1 and 3 might suggest that their clinical symptoms had noninfectious causes.
In the context of bacterial genomics, we can infer possible pathogenic sequences through syntenic comparisons (Jin et al. 2002; Tettelin et al. 2005).
Similar(53)
There are several explanations for this observation, including occurrence of a de novo pathogenic sequence variant or extreme phenotypic variability.
While our knowledge of the pathogenesis of Takayasu's arteritis (TA) has considerably improved during the last decade, the exact pathogenic sequence remains to be elucidated.
The present study was designed to screen two candidate KC genes to identify pathogenic sequence variants responsible for KC in Saudi families.
Out of the 40 pathogenic sequence variants reported in frataxin, at least 15 missense point mutations have been described.
Furthermore, the previously reported pathogenic sequence variants were not present in any of the case or control samples, though a synonymous variant involving codon 315 (p.A315A, c.945G>A) was identified in a single Caucasian control individual (ND05681).
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