An enhanced understanding of genotype-phenotype variation is provided by the Praxitype
DOI:
https://doi.org/10.17140/noj.2024.v10.i01.pp10-12.1851Keywords:
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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