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Sequential studies showed that the original ASXL1 mutation remained unchanged at disease progression in all 32 ASXL1-mutated patients but were frequently accompanied with acquisition of mutations of other genes, including RUNX1, NRAS, KRAS, SF3B1, SETBP1 and chromosomal evolution.
The most common mutation remained the deletion of a phenylalanine residue at position 508 (ΔF508), which causes inappropriate folding of CFTR, followed by its proteolytic degradation in the endoplasmic reticulum.
The type of sensitizing mutation remained the same for each patient throughout the study period.
The difference between the two types of CALR mutation remained significant after adjusting for age, ASXL1 or EZH2 mutations.
All but one of the patients with a CTNNB1 exon 3 mutation remained event-free to date during follow-up.
The BRAF V600E mutation remained as an independent predictor for poor prognosis in patients with colon cancer (HR, 4.2; 95% CI, 1.6-11.0; P = 0.004) (Table 6).
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Only 1% of children who carry an RB1 mutation remain unaffected [7].
Parents were informed of the possibility of mutation remaining unidentified.
The biological implications of this mutation remain to be investigated.
This mutation is also a splicing mutation affecting the last exon of the gene; however, it has never been validated and the consequences of the mutation remain unclear.
The resistance allele has been selected for in breeding programs using marker-assisted selection [ 17, 22], but the causal gene and mutation remain elusive.
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