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Mice carrying the Ret.k- mutation were previously characterized and analysis of homozygous embryos has demonstrated that the aganglionic phenotype is due to an early defect of the enteric NC [30].
Notably, high grade serous carcinomas carrying BRCA1 mutation were previously reported by us to possess lower PTEN mRNA levels [2], and PTEN is a among the top 20 predicted targets of miR-29a.
Four of the six cases with C9ORF72 mutation were previously classified as FTLD-TDP type A while two cases had type B pathology.
Thirty-one families had mutations in KRT6A and of the 18 different mutations, four, including a nonsense mutation, were previously unreported.
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Y105E, a phosphorylation-mimic mutation, was previously reported to inhibit PKM2 activity.
The single recessive z3 mutation was previously mapped onto the classical genetic map of the short arm of chromosome 3 (Iwata et al. 1979).
This mutation was previously associated with inherited cardiomyopathy [25], [26].
A chromosome carrying the spinosad resistance gene mutation was previously identified using AFLP markers [15].
A broad G+C substitution mutation was previously described to test the functional importance of ARS elements [24].
An allele similar to the patients' germ line mutation was previously studied in mice and found to be extremely deleterious in T cells.
This mutation was previously characterized by a low microsatellite instability phenotype [27], and a lack of functional defects, such as defective heterodimerization or ATP hydrolysis [28].
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