Article
Variable expressivity and mutation databases: The androgen receptor gene mutations database.
Human mutation - 1 May 2001
Gottlieb B, Beitel L K, Trifiro M A
Abstract excerpt
For over 50 years genetics has presumed that variations in phenotypic expression have, for the most part, been the result of alterations in genotype. The importance and value of mutation databases has been based on the premise that the same gene or allelic variation in a specific gene that has been proven to determine a specific phenotype, will always produce the same phenotype. However, recent evidence has shown...
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