Sentence examples for variants are causative from inspiring English sources
This race-specific haplotype is better associated with melanoma incidence than ERCC1 N118N alone, suggesting that N118N is merely a passenger polymorphism while other allelic variants are causative.
Salmonella is a major human pathogen and a model organism for bacterial pathogenesis research [ 3]. S. enterica subspecies I serovar Typhimurium (S. Typhimurium) is the principle subspecies employed in molecular biology and its variants are causative agents in gastroenteritis in humans.
In some cases a follow-up study is needed to determine whether a variant is causative.
It is necessary to investigate the carrier status of the parents and siblings in order to determine whether a variant is causative.
As the KCNC3Gly263Asp variant shows, even the presence of subtly changed channel function in heterologous cell systems does not prove that a DNA variant is causative in vivo.
Pathogenicity indicates the probability that a variant is causative for a given phenotype or disease.
How does Veridical decide which sequence variant is causative if there are multiple variations located in the vicinity of a given mis-spliced exon?
The parents of this patient were not available for study, so the question as to whether this variant is causative remains, but it has not been reported as a SNP on dbSNP, and the amino acid 987 is well conserved.
These data suggest that if the ZXDC p.P562L variant is causative for MMD, its penetrance in Caucasians is substantially lower than that of the RNF213 founder mutation in East Asians.
"How does Veridical decide which sequence variant is causative if there are multiple variations located in the vicinity of a given mis-spliced exon?" Veridical does not currently address cases in which multiple independent variants pertain to the same splice site.
This type of VUCS would only be communicated back to the participant if the clinical research showed that the variant was causative, and the return of the result was determined medically appropriate by our Mutation Advisory Committee, and following confirmation in a CLIA-certified laboratory.
