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Missense Mutation

Known as: Substitution Mutation, Exon Non-Synonymous Mutation, Mutation, Missense 
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or… Expand
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
PolyPhen-2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid… Expand
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Highly Cited
2005
Highly Cited
2005
Polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM) are clonal disorders… Expand
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Highly Cited
1999
Highly Cited
1999
Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental… Expand
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Highly Cited
1999
Highly Cited
1999
BACKGROUND Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated… Expand
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Highly Cited
1998
Highly Cited
1998
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and… Expand
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Highly Cited
1998
Highly Cited
1998
Mutations of the gene Lps selectively impede lipopolysaccharide (LPS) signal transduction in C3H/HeJ and C57BL/10ScCr mice… Expand
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Highly Cited
1995
Highly Cited
1995
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence… Expand
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Highly Cited
1991
Highly Cited
1991
A LOCUS segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21 (ref. 1), close to the amyloid… Expand
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Highly Cited
1991
Highly Cited
1991
MARFAN syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It… Expand
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Highly Cited
1990
Highly Cited
1990
A point mutation in exon 13 of the beta cardiac myosin heavy chain (MHC) gene is present in all individuals affected with… Expand
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