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The silent/missense mutations displayed a more heterogenous mutational spectra.
Double pop2-4 ssadh-3 mutants homozygous for both mutations displayed a pop2 phenotype.
Moreover, colorectal cancers with a high frequency of point mutations displayed a comparatively stable karyotype [ 15].
These GHSR1a mutations displayed a partial loss of constitutive activity of the GHSR1a receptor.
Specific p53 gene mutations displayed a variety of oncogenic properties mostly referred to as gain-of-function.
Similar to the U2AF1mut patients, those with SRSF2 mutations displayed a significant difference in cytogenetic results (P = 0.048).
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In fact, PLA2G6 enzyme with the R747W and R632W mutations displayed an increased rate of PC-hydrolysis relative to WT enzyme in the phospholipase assay.
Null mutations (including missense mutations disrupting the tetramerization domain) and the remaining missense mutations displayed an intermediate aggressive clinical phenotype.
Biancalana, V. et al. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
FSHD1 and FSHD2 may have an additive effect: patients harboring D4Z4 contraction and SMCHD1 mutations display a more severe clinical phenotype than with either defect alone.
At least 30% of DBA patients respond to steroid treatment and patients carrying RPS19 mutations display a poorer response [5].
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