This mutation, reported previously in a child with Leigh syndrome, is likely pathogenic as it is a missense mutation of the ND4 subunit of complex I that replaces a highly conserved tyrosine with histidine that, in turn, is predicted to markedly alter protein structure [61].
In this study, we identified the same AKT1 E17K mutation reported previously in other cancers in the tumour from a melanoma patient.
The detection of FLT3 mutations was reported previously [34].
The concomitant occurrence of PIK3CA and KRAS mutations was reported previously in CRC and other human cancer types [ 21, 35].
Although two mutations have been reported previously (3, 12), the impact of these mutations on AP-5 and at the cellular level had not been determined.
None of these mutations have been reported previously.
A similar result of the gene mutations has been reported previously in other literatures (Table 2).
Several non-synonymous mutations that were reported previously might have functional correlations with human disease.
Inherited short telomere lengths in the absence of telomerase mutations have been reported previously in one large TERC kindred[28] and have been elegantly studied in mice.
All mutations have been reported previously.
