When the mutant gene is inherited with a high-expressivity allele, there is no disease phenotype.

The disease phenotypes are due to improper bone formation and is more often seen in males though the severity depends on age.

There have been suggestions that BRCA2-associated prostate cancers are associated with aggressive disease phenotype.

Recent research found that mutations associated with a specific disease phenotype segregated to specific exons.

Epigenetic mechanisms can contribute to disease phenotypes.

In humans, deficiency of this enzyme results in a disease phenotype.

Symptoms vary based on the disease phenotype, and even within families or between twins.

The disease phenotype probably originates from reduced ability of cells to proliferate, reduced cell number, and general growth failure.

If a patient has a mutant allele and a high-expressivity allele, they do not show disease phenotype.

It will be necessary to develop thresholds to define the common variants that are unlikely to be associated with a disease phenotype.