The Praxitype: An Improved Interpretation of Genotype-Phenotype Variation

Authors

  • Vincent M. Riccardi, MD

Keywords:

Praxitype; Genotype-Phenotype variation; Genome variation; Neurological disorders; Neurofibromatosis type 1 (NF1).

Abstract

There is a need for an understanding of the genomic reality that realizes a connector between the genotype and the phenotype
by addressing HOW the genotype actually manifests as the phenotype, as a function of the locus or the allele, mutated, variant
or wildtype. That understanding is encompassed by the notion of the PRAXITYPE, which assembles and presents the available
answers to the HOW!

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Published

2019-06-18

Issue

Section

Articles