Exact(1)
This is a known mutation called APOE Tokyo causing LPG [ 11].
Similar(7)
We investigated the possibility of the molecular cause of this PRA being a known mutation, by carrying out the genetic tests for XLPRA1 and XLPRA2.
We considered F1463C as a pathogenic mutation because the same phenylalanine amino acid substituted for a serine at this position is a known A-T mutation.
In the study isolate, this reduced susceptibility was due to a known mutation 83-Ser→Phe in gyrA (8 ) and the acquisition of a qnB2 gene.
p.Q2243X (c.6727C > T) is a known nonsense mutation located in exon 15 of PKD1.
Also, p.Thr318Met in the I-helix is a known deleterious mutation causing aldosterone synthase deficiency [ 11].
Because of this, the parameters must be scaled based on a known mutation or drift rate.
This may be due to external stimulation or a known mutation in the protein that makes it constitutively active, for example.
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