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Nevertheless, both the fraction of mutated mRNA and protein for this mutation are significantly below 50%.
And yet in the US most women who test positive for this mutation tend to have an oopherectomy, while many fewer opt for a mastectomy.
"We were able to give a drug we've never used before for this mutation".
The problem is that the original social graph isn't built for this mutation.
Hence, screening for this mutation in clinical practice is not justified.
I had the mutation, but I also had something most women and men who test for this mutation don't have -- the security of a second opinion.
Most patients are homozygous for this mutation.
A normal heterozygote carrier for this mutation has been reported [30].
He was homozygous for this mutation, his parents, who were first cousins, being heterozygous.
Thus for this mutation we were able to confirm the mutation in the original tissue in a subset of alleles.
Despite the fact that people with this mutation exhibit no clinical abnormalities [28], testing for this mutation is of considerable clinical importance.
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CEO of Professional Science Editing for Scientists @ prosciediting.com