Exact(2)
Recessive FBXO7 mutations are definitely established as the cause of PARK15, a novel form of juvenile neurodegenerative parkinsonism with additional pyramidal signs [10], [11].
For PKD1, 200 (67%) mutations are definitely pathogenic (nonsense, frameshift, or splicing) and 98 (33%) are missense or other in-frame events.
Similar(58)
Considering the mutation's position and the affected protein; the truncated mutation is definitely not compatible with the normal function of CEP135[ 20].
TET2 mutation is definitely a driver for MDS or myeloproliferative neoplasm, in which a primary role of disease-initiating mutation is to expand premalignant clones in the BM overriding normal hematopoiesis.
In Figure 2, the points are not located to the diagonal distribution (red line) and the values of GC3 are in a narrow distribution, indicating GC12 and GC3 are definitely not the mutation bias model [ 25].
More studies focused on the assessment of new heteroplasmic mtDNA mutations affecting mitochondrial function in relation to atherosclerosis and oncopathology are definitely required.
There are definitely opportunities.
The ideas are definitely fascinating.
They are definitely worth it!
Such studies are definitely warranted.
These are definitely important questions.
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