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The two mutations were designated acdX1 and acdX2.
Mutations were designated according to the Human Genome Variation Society guidelines (http://www.hgvs.org/mutnomen/).hgvs.org/mutnomen/
Expressed SEO genes containing frameshift mutations were designated as potential expressed pseudogenes.
The patients with two class I, II, or III CFTR mutations were designated for group A (10 CF patients) and those with at least one class IV, V, or VI CFTR mutation were designated for group B (five CF patients).
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The clone containing 9 mutations was designated pS660.
The polarization of mutations was designated "ancestral nucleotide -to- current onucleotide -to- current
The presence of any one of the four PIK3CA mutations in a tumor was designated as PIK3CA mutation, whereas the absence of these four mutations was designated as PIK3CA wild-type.
Mutations are designated on the coding DDR2 sequence with reference to GenBank accession number NM_001014796.1 with the A of the initiation codon ATG as number +1.
24 As a result, these mutations are designated in genetic test reports into an ambiguous category, ie, variants of uncertain significance (VUS), with virtually no clinical utility for family screening.
Lack of a detectable C282Y or H63D mutation was designated as HFE wild-type (wt/wt).
The recombinant plasmids were checked by DNA sequencing, and the successfully introduced desired mutation was designated as pGEX-6p-I249L pGEX-6p-I249L pGEX-6p-I249L
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