Addressing the Needs of Patients with Ultra-Rare Mutations One Patient at a Time: The n-Lorem Approach.

Abstract excerpt

Thanks to the advent of genomic sequencing and numerous personalized medicine initiatives in various medical centers, it is now known that there are many patients who have heretofore never been diagnosed who have mutations that are unique to them and them only and others that may be members of an extremely rare mutation (<30 patients in the world). Although each mutation may be unique it is now estimated that...

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