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Exact(22)
Although many SMA missense mutations reside in exons 6 and 7 of SMN1, others have been identified in exons 1-4.
It may be that the majority of relevant mutations reside in regulatory regions.
Gene reference assays detect the genes that the target mutations reside in.
Currently, more than 90% of the known EGFR mutations reside in exons 19−21 (Fig. 2).
Note that residues corresponding to cis-suppressing mutations reside in the internal pore region.
All 122 mutations reside in coding regions of the MxA protein.
Similar(38)
Two responsible mutations resided in the C-terminal region of NS5A, G404S, and E442G and were each sufficient for low-level RBV resistance.
Several SMA patient mutations residing in the N-terminus revealed a reduction in calpain susceptibility.
Theoretically, all mutations residing in the cytoplasmic part of the receptor could influence the binding of adaptor proteins or substrates of TRKB, independent of the effect on kinase activity.
According to the sequencing results these two mutations resided in separate molecules.
None of the non-coding mutations resided in splicing donor/acceptor sites.
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