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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1968-2018
0500100019682018

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… (More)
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Highly Cited
2010
Highly Cited
2010
Applications of rapidly advancing sequencing technologies exacerbate the need to interpret individual sequence variants… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND Mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene in lung cancers are… (More)
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Highly Cited
2004
Highly Cited
2004
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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