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In the other family, including individuals with varying phenotypes, a single variant was detected.
The variant was detected during analysis of a reference sample throughout a paternity exclusion case.
A missense variant was detected on chromosome 11 (posithat116652892) that leads to substitution of an aminoacid in the encoded protein.
Since the 5R variant was detected only in 4 patients out 150, it was excluded from statistical analysis.
This variant was detected during HbA1c measurement and was associated with a normal blood count and a positive isopropanol test.
The MT2-V124I variant was detected in one patient, but not in controls.
At least one SLC26A4 variant was detected by the APEX array in nine subjects.
The MT1-I49N variant was detected in a patient with ASD, but not in our control sample (Table 1).
This variant was detected in an index case who also carries the novel BRCA1 R762S variant of uncertain significance.
Neither variant was detected in control subjects and they were not identified in any additional colorectal cancer cases.
The Δexon14 variant was detected in 9 of the 61 (15%) confirmed MPN patients, accounting for 3.96% to 33.85% (mean = 12.04%) of total JAK2 transcript.
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