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The KChIP1 EF hand mutations appeared, therefore, to specifically impair the traffic of Kv4.2/KChIP1.
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A telomere maintenance mechanism (either TERTp mutation or ATRX/DAXX mutations) is involved in >80% of gliomas and appears therefore as a unique feature in these tumors, offering the prospect of new therapeutic approaches.
Since this mutation only removes the last 24 residues of FBXO7, the C-terminus appears therefore very important for the stability of this protein.
The edge effects appear therefore species-specific.
Their designation as subspecies appears therefore justified.
With the exception of isolated reports, CALR mutations are absent in PV, whereas their frequencies are estimated at 20 25% in ET and PMF; therefore, CALR mutations appear to be relatively specific to ET and PMF.
Therefore, for internal exons, mCG-related mutations appear to be an important factor affecting dS.
Overall, KRS mutations appear to affect structural stability of the enzyme leading to CMT and therefore these mutations fall in category (b) and (d).
HA D222 mutations appear sporadically and spontaneously.
These mutations appear hypomorphic in nature.
These mutations appear to be more subtle.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com