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There are examples of cancer mutations displaying a subgroup level of conservation, including EGFR-L858 position, which bears a conserved leucine in EGFR and ABL kinases, or a conserved aspartate shared in FLT3, KIT, MET, PDGFRα.
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The silent/missense mutations displayed a more heterogenous mutational spectra.
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.
Double pop2-4 ssadh-3 mutants homozygous for both mutations displayed a pop2 phenotype.
At least 30% of DBA patients respond to steroid treatment and patients carrying RPS19 mutations display a poorer response [5].
Our data indicate that the occurrence of GNAQ mutations display a unique pattern being present in a subset of melanocytic tumors but not in malignancies of glial, epithelial and stromal origin analyzed in this study.
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).
Three individuals from two families carrying the A531V mutation with compound heterozygosity for two different nonsense mutations displayed a remarkable variability of transitory depression upon successive examinations.
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