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Later in the study, after the protocol-based interpretation and reporting pipelines had been established, each variant was described and classified by the curation team and then reviewed and finalized by at least two reviewers (a medical geneticist and a medical oncologist).
Eahy926 cells were cultured as described in Rohlena et al. Generation of the S68A variant was described earlier.
This variant was described as one of the most prevalent variants among young adults in Tanzania, Dar-es-Salaam [ 14] and adults in the Kilimangiaro, Kagera and Mwanza regions [ 13, 15].
Shortly after its initial detection, CPV-2 was replaced by two antigenic variants, CPV-2a and CPV-2b and more recently a third variant was described CPV-2c [ 5, 6].
Although this variant was described by several in silico predictor tools [i.e. MutationTaster (19), Polyphen-2 (20) and SIFT (21)] as highly damaging, there was no clear genotype phenotype relationship in both families.
The NDM-3 variant was described from an E. coli isolate and differs from NDM-1 by a single nucleotide change conferring a peptide sequence change at position 95 (Asp → Asn) that does not modify the hydrolytic activities of the enzyme [ 11].
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The variant is described as pathogenic in the common public variant databases.
Mutagenic primers used to generate the BRCA1 1708E variant are described elsewhere [ 3].
Primers for the NMD sensitive RPL3 variant were described previously (Cuccurese et al, 2005).
A crucial element of variant nomenclature is the reference DNA sequence with respect to which a variant is described.
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