Novel Mutation

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

Topic mentions per year

Topic mentions per year

1992-2018
0102019922018

Papers overview

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2015
2015
Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we… (More)
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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… (More)
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2010
2010
BACKGROUND Mutations in the nucleophosmin (NPM1) gene have been solely associated with childhood acute myeloid leukemia (AML). We… (More)
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2010
2010
We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological… (More)
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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… (More)
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2005
2005
Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In… (More)
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2001
2001
Mutations in the ras gene are key events in the process of carcinogenesis; in particular, point mutations in codon 61 of exon 2… (More)
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1999
1999
We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the… (More)
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1999
1999
Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial… (More)
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1992
1992
A panel of 200 unrelated NF1 individuals has been screened for mutations using a panel of specific clones for the entire gene… (More)
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