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We have further demonstrated that this mutation is concordant with the osteopetrosis phenotype.
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All patients with a rare mutation were concordant with respect to mutation status (Table 2) opposed to patients with V600E mutation, which previously showed some discordant results (Houben et al, 2004).
The c.693+304G>A mutation was concordant with the cat PK deficiency phenotype, while the c.693+320C>T mutation was homozygous in cats with no clinical history of anemia and therefore presumed discordant.
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses, which has an autosomal recessive mode of inheritance.
This mutation is present at high levels (>2500 copies/mL plasma) in liver cancer patients and its presence at such levels is concordant with mutation status in HCC tissues [ 38].
The low incidence of CDKN2A mutations found in primary melanomas is concordant with previous reports [ 42, 43].
Similarly, Otsuka et al.[ 56] reported the presence of a KRAS mutation in metastatic sites but not the primary colorectal tumor in 1 of 9 patients studied; BRAF mutation status was concordant in all cases, in contrast to what we observed.
BRAF mutation status was concordant in 95.2% of the 62 paired samples.
Nearby polymorphisms can be in complete LD and, as a consequence, several polymorphisms other than the causative mutation may be concordant with the QTL.
Thus, the observed dominant transition effect on CpGs is concordant with the expected methylation-derived mutations.
This result is concordant with the data of Gravendeel et al. who found a correlation between TP53 mutation and IDH1 nonR 132 H mutation [ 26].
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