Article
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.
Human mutation - 1 Aug 2002
Terp Bent N, Cooper David N, Christensen Inge T, Jørgensen Flemming S, Bross Peter, Gregersen Niels, Krawczak Michael
Abstract excerpt
The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (HGMD) is a two-stage process: first, the mutation must occur at the DNA level, then it must cause a clinically detectable disease state. The likelihood of the latter step, termed the relative clinical observation likelihood (RCOL), can be regarded as a function of the structural/functional consequences of a...
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