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Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation.
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Recurrent somatic mutation of SRSF2, one of the RNA splicing machinery genes, has been identified in a substantial proportion of… Expand
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Highly Cited
2010
Highly Cited
2010
Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) Alzheimer's… Expand
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Highly Cited
2008
Highly Cited
2008
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in… Expand
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Highly Cited
2008
Highly Cited
2008
Abstract This study establishes deltamethrin resistance in a common bed bug, Cimex lectularius L., population collected from New… Expand
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Highly Cited
2006
Highly Cited
2006
UNLABELLED Sequestosome 1/p62 (p62) mutations are associated with PDB; however, there are limited data regarding functional… Expand
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Highly Cited
2006
Highly Cited
2006
Multiple genes have been now identified as causing Parkinson's disease (PD). In 2003, two mutations were identified in exon 1 of… Expand
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2006
2006
Mutations in each of the 13 identified human PEX genes are known to cause a peroxisomal biogenesis defect (PBD). Affected… Expand
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Individuals with the cytochrome P450 (CYP) 2D6 intermediate metabolizer (IM) phenotype have low residual enzyme… Expand
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Highly Cited
1999
Highly Cited
1999
We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the… Expand
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Highly Cited
1995
Highly Cited
1995
ABSTRACT: Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids. The… Expand
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