Deleterious Mutation

A mutation that is documented to be associated with risk of disease.
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Parkinson disease is caused by neuronal loss in the substantia nigra which manifests by abnormality of movement, muscle tone, and… (More)
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Highly Cited
2007
Highly Cited
2007
Spontaneous mutations are the source of genetic variation required for evolutionary change, and are therefore important for many… (More)
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Highly Cited
2006
Highly Cited
2006
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been… (More)
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Highly Cited
2002
Highly Cited
2002
Methods for automated prediction of deleterious protein mutations have utilized both structural and evolutionary information but… (More)
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Highly Cited
2000
Highly Cited
2000
It has been suggested that sexual reproduction is maintained because it reduces the load imposed by recurrent deleterious… (More)
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Highly Cited
2000
Highly Cited
2000
Spontaneous mutation to mildly deleterious alleles has emerged as a potentially unifying component of a variety of observations… (More)
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Highly Cited
1999
Highly Cited
1999
The frequency and selective impact of deleterious mutations are fundamental parameters in evolutionary theory, yet they have not… (More)
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Review
1997
Review
1997
In this paper, we examine the conditions that allow increased recombination to evolve in the presence of recurrent deleterious… (More)
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Highly Cited
1995
Highly Cited
1995
An analytic expression for the expected nucleotide diversity is obtained for a neutral locus in a region with deleterious… (More)
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Highly Cited
1993
Highly Cited
1993
We propose a method of measuring the human genomic deleterious mutation rate based on comparison of the rate of evolution per… (More)
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